chromosomes and chromosome abnormalities

8/3/2019 Chromosomes and Chromosome Abnormalities

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CHROMOSOMES


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What Are

Chromosomes? Rod shaped structuresmade of DNA & Protein

DNA stores thegenetic information thatcells will use

Proteins- sphere shapedstructures that the DNAwraps around

Proteins

DNA


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Chromosome Shape

Centromere

Chromatids


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CENTROMERES/ CHROMATIDS

Centromere- holds the chromatidstogether

Chromatids- identical sides of thechromosomes

Contain same genetic information on bothsides


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Chromatin

Chromososomes are only present

during cell division. In

between cell division

chromosomes are unraveled and

called Chromatin


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PROKARYOTIC VS EUKARYOTICCHROMOSOMES

ProkaryoticChromosomescircular, smaller, NOT

in Nucleus

Eukaryotic Larger,rod shaped, inNucleus

Chromosome


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Chromosome Numbers

Organism # ofchromosome

Fruit Fly 8

Carrot & Lettuce 18

Cat 32

Earthworm 36

Human 46

Gorilla 48

Sand Dollar 52

Adders Tongue Fern 1262


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Chromosome Numbers

Chromosome Genes Total base pairsSequenced base

pairs

1 4,220 247,199,719 224,999,719

2 1,491 242,751,149 237,712,649

3 1,550 199,446,827 194,704,827

4 446 191,263,063 187,297,063

5 609 180,837,866 177,702,766

6 2,281 170,896,993 167,273,993


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Chromosome Numbers

7 2,135 158,821,424 154,952,424

8 1,106 146,274,826 142,612,826

9 1,920 140,442,298 120,312,298

10 1,793 135,374,737 131,624,737

11 379 134,452,384 131,130,853

12 1,430 132,289,534 130,303,534


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Chromosome Numbers

13 924 114,127,980 95,559,980

14 1,347 106,360,585 88,290,585

15 921 100,338,915 81,341,915

16 909 88,822,254 78,884,754

17 1,672 78,654,742 77,800,220

18 519 76,117,153 74,656,155


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Chromosome Numbers

19 1,555 63,806,651 55,785,651

20 1,008 62,435,965 59,505,254

21 578 46,944,323 34,171,998

22 1,092 49,528,953 34,893,953

X (sexchromosome)

1,846 154,913,754 151,058,754

Y (sexchromosome)

454 57,741,652 25,121,652

Total 32,185 3,079,843,747 2,857,698,560


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c s more comp ex nterms of functions &

intelligence?Adders Tongue Fern

OR

Human


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OK Bad Example


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Two Types ofChromosomes

SEX Chromosomes

Determine the gender of the individual

Carry few other traits 2 of the 46 chromosomes

AUTOSOMES Carry most of the traits that we inherit

44 of the 46 chromosomes


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SEX Chromosomes

XX =

XY =


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HOMOLOGOUSCHROMOSOMES

A pair of autosomes that have the identical traitfor a certain characteristic (eye color).

You receive one of the homologous pairs from

your father and one homologous pair from yourmother

Humans have 44 autosomes (minus the 2 sexchromosomes) so they have 22 pairs of

homologous autosomes Homologous chromosomes are the same size

and shape


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KARYOTYPE A picture taken from a microscope of all the

chromosomes within a cell. The chromosomesare then arranged in homologous pairs andgiven a set of numbers


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KARYOTYPE


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KARYOTYPE


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Diploid vs Haploid Cells

Diploid Haploid

Description Both sets ofhomologous

chromosomes present

Only one of eachhomologous

chromosomepresent

Type of Cell All cells but sexcells (egg or

sperm)

Only sex cells-Egg or Sperm

Abbreviation 2n 1n


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Chromosomal Abnormalities

chromosomeanomaly, abnormality or aberration reflects anatypical number of chromosomes or a structuralabnormality in one or more chromosomes.

A chromosome anomaly may be detected orconfirmed in this manner. Chromosomeanomalies usually occur when there is an error

in cell division following meiosis or mitosis.There are many types of chromosomeanomalies. They can be organized into twobasic groups, numerical and structuralanomalies.


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Numerical Anomalies Aneuploidy is an abnormal number

of chromosomes, and is a type of chromosomeabnormality.

An extra or missing chromosome is a common

cause of genetic disorders (birth defects). Somecancer cells also have abnormal numbers ofchromosomes.

Aneuploidy occurs during cell division when the

chromosomes do not separate properly betweenthe two cells. Chromosome abnormalities occurin 1 of 160 live births. The most common extrachromosomes among live birthsare 21, 18 and 13


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Numerical Anomalies

Polysomy is a condition in which anorganism has at least onemore chromosome than normal. There maybe three or more copies of the chromosome

rather than the expected two copies.

Polysomy is usually caused by non-disjunction (the failure of a pair

of homologous chromosomes to separate)during meiosis, but may also be due to atranslocation mutation.


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Numerical Anomalies Monosomy is a form of aneuploidy with the

presence of only one chromosome (instead of thetypical two in humans) from a pair. Partialmonosomy occurs when only a portion of thechromosome has one copy, while the rest has two

copies.

Deletion (also called gene deletion, deficiency,or deletion mutation) is a mutation in which a part

of a chromosome or a sequence of DNA is missing.Deletion is the loss of genetic material. Any numberof nucleotides can be deleted, from a single base toan entire piece of chromosome. Deletions can becaused by errors in chromosomal

crossover during meiosis.


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Polysomies Down syndrome or trisomy 21, is

a chromosomal condition caused by thepresence of all or part of an extra 21stchromosome.

The effects and extent of the extra copy varygreatly among people, depending on genetichistory, and pure chance. The incidence ofDown syndrome is estimated at 1 per 733 births,although it is statistically more common witholder parents due to increased mutagenicexposures upon some older parents'reproductive cells.


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Down Syndrome


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Polysomies Trisomy 18 (T18) (also known as Trisomy

E or Edwards syndrome) is a geneticdisorder caused by the presence of all or part ofan extra 18th chromosome.

The incidence of the syndrome is estimated asone in 3,000 live births.[2] The incidenceincreases as the mother's age increases. Thesyndrome has a very low rate of survival,resulting from heart abnormalities, kidneymalformations, and other internal organdisorders.
http://en.wikipedia.org/wiki/Genetic_disorderhttp://en.wikipedia.org/wiki/Genetic_disorderhttp://en.wikipedia.org/wiki/Chromosome_18_(human)http://en.wikipedia.org/wiki/Incidence_(epidemiology)http://en.wikipedia.org/wiki/Edwards_syndromehttp://en.wikipedia.org/wiki/Edwards_syndromehttp://en.wikipedia.org/wiki/Edwards_syndromehttp://en.wikipedia.org/wiki/Edwards_syndromehttp://en.wikipedia.org/wiki/Incidence_(epidemiology)http://en.wikipedia.org/wiki/Chromosome_18_(human)http://en.wikipedia.org/wiki/Chromosome_18_(human)http://en.wikipedia.org/wiki/Chromosome_18_(human)http://en.wikipedia.org/wiki/Chromosome_18_(human)http://en.wikipedia.org/wiki/Genetic_disorderhttp://en.wikipedia.org/wiki/Genetic_disorderhttp://en.wikipedia.org/wiki/Genetic_disorder


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Edwards Syndrome


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Polysomies Patau syndrome, also known as trisomy

13 and trisomy D. Most cases of Patausyndrome are not inherited, but occur as randomevents during the formation of reproductive cells(eggs and sperm).

An error in cell division called non-disjunction can result in reproductive cells withan abnormal number of chromosomes.


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Pataus Syndrome


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Polysomies Trisomy 9 is a chromosomal disorder caused by having

three copies (trisomy) of chromosome number 9.

Symptoms vary, but usually result in dysmorphisms inthe skull, nervous system, and mental retardation.

Dysmorphisms in the heart, kidneys, andmusculoskeletal system may also occur. An infant withcomplete trisomy 9 surviving 20 days after birth showedclinical features including a small face, low set ears, upslanting palpebral fissures, high arched palate,

short sternum, overlapping fingers, limited hipabduction, rocker bottom feet, heart murmurs and also awebbed neck
http://en.wikipedia.org/wiki/Genetic_disorderhttp://en.wikipedia.org/wiki/Trisomyhttp://en.wikipedia.org/wiki/Chromosome_number_9http://en.wikipedia.org/wiki/Dysmorphismhttp://en.wikipedia.org/wiki/Human_skullhttp://en.wikipedia.org/wiki/Nervous_systemhttp://en.wikipedia.org/wiki/Mental_retardationhttp://en.wikipedia.org/wiki/Hearthttp://en.wikipedia.org/wiki/Kidneyshttp://en.wikipedia.org/wiki/Musculoskeletalhttp://en.wikipedia.org/wiki/Palpebral_fissureshttp://en.wikipedia.org/wiki/Palatehttp://en.wikipedia.org/wiki/Human_sternumhttp://en.wikipedia.org/wiki/Rocker_bottom_feethttp://en.wikipedia.org/wiki/Heart_murmurshttp://en.wikipedia.org/wiki/Heart_murmurshttp://en.wikipedia.org/wiki/Heart_murmurshttp://en.wikipedia.org/wiki/Heart_murmurshttp://en.wikipedia.org/wiki/Rocker_bottom_feethttp://en.wikipedia.org/wiki/Rocker_bottom_feethttp://en.wikipedia.org/wiki/Rocker_bottom_feethttp://en.wikipedia.org/wiki/Rocker_bottom_feethttp://en.wikipedia.org/wiki/Rocker_bottom_feethttp://en.wikipedia.org/wiki/Human_sternumhttp://en.wikipedia.org/wiki/Palatehttp://en.wikipedia.org/wiki/Palpebral_fissureshttp://en.wikipedia.org/wiki/Palpebral_fissureshttp://en.wikipedia.org/wiki/Palpebral_fissureshttp://en.wikipedia.org/wiki/Musculoskeletalhttp://en.wikipedia.org/wiki/Kidneyshttp://en.wikipedia.org/wiki/Hearthttp://en.wikipedia.org/wiki/Mental_retardationhttp://en.wikipedia.org/wiki/Mental_retardationhttp://en.wikipedia.org/wiki/Mental_retardationhttp://en.wikipedia.org/wiki/Nervous_systemhttp://en.wikipedia.org/wiki/Nervous_systemhttp://en.wikipedia.org/wiki/Nervous_systemhttp://en.wikipedia.org/wiki/Human_skullhttp://en.wikipedia.org/wiki/Dysmorphismhttp://en.wikipedia.org/wiki/Chromosome_number_9http://en.wikipedia.org/wiki/Chromosome_number_9http://en.wikipedia.org/wiki/Chromosome_number_9http://en.wikipedia.org/wiki/Chromosome_number_9http://en.wikipedia.org/wiki/Chromosome_number_9http://en.wikipedia.org/wiki/Trisomyhttp://en.wikipedia.org/wiki/Genetic_disorderhttp://en.wikipedia.org/wiki/Genetic_disorderhttp://en.wikipedia.org/wiki/Genetic_disorder


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Trisomy 9


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Trisomy 8


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Polysomies Cat Eye Syndrome (aka. CES) is a rare

condition caused by the short arm and a smallsection of the long arm of human Chromosome22 being present three (trisomic) or four times(tetrasomic) instead of the usual two times. The

term "Cat Eye" syndrome was coined becauseof the particular appearance of the eyes of somepatients. However, over half of the CES patientsin the literature do not present with this trait.
http://en.wikipedia.org/wiki/Chromosome_22http://en.wikipedia.org/wiki/Chromosome_22http://en.wikipedia.org/wiki/Tetrasomyhttp://en.wikipedia.org/wiki/Tetrasomyhttp://en.wikipedia.org/wiki/Chromosome_22http://en.wikipedia.org/wiki/Chromosome_22http://en.wikipedia.org/wiki/Chromosome_22


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Polysomies

Trisomy 16 is a chromosomalabnormality in which there are threecopies of chromosome 16 rather than two.It is the most common chromosomalcause of miscarriage during the firsttrimester of pregnancy.
http://en.wikipedia.org/wiki/Chromosomal_abnormalityhttp://en.wikipedia.org/wiki/Chromosomal_abnormalityhttp://en.wikipedia.org/wiki/Chromosome_16_(human)http://en.wikipedia.org/wiki/Miscarriagehttp://en.wikipedia.org/wiki/Pregnancyhttp://en.wikipedia.org/wiki/Pregnancyhttp://en.wikipedia.org/wiki/Miscarriagehttp://en.wikipedia.org/wiki/Chromosome_16_(human)http://en.wikipedia.org/wiki/Chromosome_16_(human)http://en.wikipedia.org/wiki/Chromosome_16_(human)http://en.wikipedia.org/wiki/Chromosomal_abnormalityhttp://en.wikipedia.org/wiki/Chromosomal_abnormalityhttp://en.wikipedia.org/wiki/Chromosomal_abnormality


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Monosomies and Deletions

Cri du chat syndrome, also knownas chromosome 5p deletion syndrome, 5pminus syndrome or Lejeunes syndrome, is arare genetic disorder due to a missing part

of chromosome 5. Its name is a French term(cat-cry or call of the cat) referring to thecharacteristic cat-like cry of affected children.


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Monosomies and DeletionsAbout 1/3 of children lose the cry by age 2. Other

symptoms of cri du chat syndrome may include:

feeding problems because of difficulty swallowingand sucking.

low birth weight and poor growth. severe cognitive, speech, and motor delays.

behavioral problems such as hyperactivity,aggression, tantrums, and repetitive movements.

unusual facial features which may change over time.

excessive drooling.

constipation.


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Cri du Chat


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Williams syndrome is a rare neurodevelopmentaldisorder. It is caused by a deletion of about 26genes from the long arm of chromosome 7

The most common symptoms of Williams syndromeare mental disability, heart defects, and unusualfacial features. Other symptoms include failure togain weight appropriately in infancy and low muscletone. Most individuals with Williams syndrome arehighly verbal and overly sociable, having what hasbeen described as a "cocktail party" typepersonality, and exhibit a remarkable blend ofcognitive strengths and weaknesses.


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Williams Syndrome


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DiGeorge Syndrome is a syndrome caused bythe deletion of a small piece of chromosome 22.

Characteristic signs and symptoms may include

birth defects such as congenital heart disease,defects in the palate, most commonly related toneuromuscular problems with closure (velo-pharyngeal insufficiency), learning disabilities,

mild differences in facial features, andrecurrent infections due to the abnormalities inthe T-cells.
http://en.wikipedia.org/wiki/Chromosome_22_(human)http://en.wikipedia.org/wiki/Infectionhttp://en.wikipedia.org/wiki/Infectionhttp://en.wikipedia.org/wiki/Chromosome_22_(human)http://en.wikipedia.org/wiki/Chromosome_22_(human)http://en.wikipedia.org/wiki/Chromosome_22_(human)


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DiGeorge Syndrome


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Monosomies and Deletions Jacobsen Syndrome, also known as 11q deletion

disorder, is a rare congenital disorder resulting fromdeletion of a terminal region of chromosome 11.

Heart defects

Mild to severe intellectual disabilities Low-platelets (thrombocytopenia)

Facial/skeletal (dysplasia)

Wide-set eyes caused by trigonocephaly

Folding of the skin near the eye (epicanthus)

Short, upturned nose (anteverted nostrils) Thin lips that curve inward

Displaced receding chin (retrognathia)

Low-set, misshapen ears

Permanent upward curvature of the pinkie and ring fingers (camptodactyly)

Large great toes/Hammer toes
http://en.wikipedia.org/wiki/Congenital_disorderhttp://en.wikipedia.org/wiki/Chromosome_11http://en.wikipedia.org/wiki/Thrombocytopeniahttp://en.wikipedia.org/wiki/Dysplasiahttp://en.wikipedia.org/wiki/Trigonocephalyhttp://en.wikipedia.org/wiki/Epicanthushttp://en.wikipedia.org/wiki/Retrognathiahttp://en.wikipedia.org/wiki/Camptodactylyhttp://en.wikipedia.org/wiki/Hammer_toehttp://en.wikipedia.org/wiki/Hammer_toehttp://en.wikipedia.org/wiki/Camptodactylyhttp://en.wikipedia.org/wiki/Retrognathiahttp://en.wikipedia.org/wiki/Epicanthushttp://en.wikipedia.org/wiki/Trigonocephalyhttp://en.wikipedia.org/wiki/Dysplasiahttp://en.wikipedia.org/wiki/Thrombocytopeniahttp://en.wikipedia.org/wiki/Chromosome_11http://en.wikipedia.org/wiki/Chromosome_11http://en.wikipedia.org/wiki/Chromosome_11http://en.wikipedia.org/wiki/Congenital_disorderhttp://en.wikipedia.org/wiki/Congenital_disorderhttp://en.wikipedia.org/wiki/Congenital_disorder


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Jacobsen Syndrome


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Monosomies and Deletions Jacobsen Syndrome, also known as 11q deletion

disorder, is a rare congenital disorder resulting fromdeletion of a terminal region of chromosome 11.

Heart defects

Mild to severe intellectual disabilities

Low-platelets Facial/skeletal

Wide-set eyes caused by

Folding of the skin near the eye

Short, upturned nose

Thin lips that curve inward

Displaced receding chin

Low-set, misshapen ears

Permanent upward curvature of the pinkie and ring fingers

Large great toes/Hammer toes
http://en.wikipedia.org/wiki/Congenital_disorderhttp://en.wikipedia.org/wiki/Chromosome_11http://en.wikipedia.org/wiki/Chromosome_11http://en.wikipedia.org/wiki/Chromosome_11http://en.wikipedia.org/wiki/Chromosome_11http://en.wikipedia.org/wiki/Congenital_disorderhttp://en.wikipedia.org/wiki/Congenital_disorderhttp://en.wikipedia.org/wiki/Congenital_disorder


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Monosomies (Sex Linked) Sex Linked anomalies in the sex

chromosomes (XY)

Turner syndrome encompasses several

conditions in human females, of whichmonosomy X (absence of an entire sexchromosome. It is a chromosomal abnormality inwhich all or part of one of the sexchromosomes is absent.
http://en.wikipedia.org/wiki/Femalehttp://en.wikipedia.org/wiki/Monosomyhttp://en.wikipedia.org/wiki/Chromosomal_abnormalityhttp://en.wikipedia.org/wiki/Sex_chromosomeshttp://en.wikipedia.org/wiki/Sex_chromosomeshttp://en.wikipedia.org/wiki/Sex_chromosomeshttp://en.wikipedia.org/wiki/Sex_chromosomeshttp://en.wikipedia.org/wiki/Sex_chromosomeshttp://en.wikipedia.org/wiki/Chromosomal_abnormalityhttp://en.wikipedia.org/wiki/Chromosomal_abnormalityhttp://en.wikipedia.org/wiki/Chromosomal_abnormalityhttp://en.wikipedia.org/wiki/Monosomyhttp://en.wikipedia.org/wiki/Female


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Monosomies (Sex Linked) There are characteristic physical abnormalities, such

as short stature, swelling, broad chest, lowhairline, low-set ears, and webbed necks. Girls withTurner syndrome typically experience gonadaldysfunction (non-working ovaries), which results

in amenorrhea (absence of menstrual cycle)and sterility. Congenital heartdisease, hypothyroidism (reduced hormone secretion by the thyroid), diabetes, vision problems,hearing concerns, and many autoimmune diseases.

Finally, a specific pattern of cognitive deficits is oftenobserved, with particular difficulties in visiuospatial,mathematical, and memory areas
http://en.wikipedia.org/wiki/Short_staturehttp://en.wikipedia.org/wiki/Lymphoedemahttp://en.wikipedia.org/wiki/Low-set_earshttp://en.wikipedia.org/wiki/Webbed_neckhttp://en.wikipedia.org/wiki/Ovarieshttp://en.wikipedia.org/wiki/Amenorrheahttp://en.wikipedia.org/wiki/Infertilityhttp://en.wikipedia.org/wiki/Hypothyroidismhttp://en.wikipedia.org/wiki/Hormonehttp://en.wikipedia.org/wiki/Thyroidhttp://en.wikipedia.org/wiki/Diabetes_mellitushttp://en.wikipedia.org/wiki/Ophthalmologyhttp://en.wikipedia.org/wiki/Memoryhttp://en.wikipedia.org/wiki/Memoryhttp://en.wikipedia.org/wiki/Ophthalmologyhttp://en.wikipedia.org/wiki/Diabetes_mellitushttp://en.wikipedia.org/wiki/Thyroidhttp://en.wikipedia.org/wiki/Hormonehttp://en.wikipedia.org/wiki/Hypothyroidismhttp://en.wikipedia.org/wiki/Infertilityhttp://en.wikipedia.org/wiki/Amenorrheahttp://en.wikipedia.org/wiki/Ovarieshttp://en.wikipedia.org/wiki/Webbed_neckhttp://en.wikipedia.org/wiki/Webbed_neckhttp://en.wikipedia.org/wiki/Webbed_neckhttp://en.wikipedia.org/wiki/Low-set_earshttp://en.wikipedia.org/wiki/Low-set_earshttp://en.wikipedia.org/wiki/Low-set_earshttp://en.wikipedia.org/wiki/Low-set_earshttp://en.wikipedia.org/wiki/Low-set_earshttp://en.wikipedia.org/wiki/Lymphoedemahttp://en.wikipedia.org/wiki/Short_staturehttp://en.wikipedia.org/wiki/Short_staturehttp://en.wikipedia.org/wiki/Short_stature


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Turners Syndrome


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Polyploidy (Sex Linked) Klinefelter syndrome, 46/47, XXY, or XXY

syndrome is a condition in which human maleshave an extra X chromosome. While femaleshave an XX chromosomal makeup, and malesan XY, affected individuals have at least two X

chromosomes and at least one Y chromosome.Because of the extra chromosome, individualswith the condition are usually referred to as"XXY Males", or "47, XXY Males
http://en.wikipedia.org/wiki/X_chromosomehttp://en.wikipedia.org/wiki/X_chromosomehttp://en.wikipedia.org/wiki/Y_chromosomehttp://en.wikipedia.org/wiki/Trisomyhttp://en.wikipedia.org/wiki/Trisomyhttp://en.wikipedia.org/wiki/Trisomyhttp://en.wikipedia.org/wiki/Trisomyhttp://en.wikipedia.org/wiki/Y_chromosomehttp://en.wikipedia.org/wiki/Y_chromosomehttp://en.wikipedia.org/wiki/Y_chromosomehttp://en.wikipedia.org/wiki/X_chromosomehttp://en.wikipedia.org/wiki/X_chromosomehttp://en.wikipedia.org/wiki/X_chromosome


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Polyploidy (Sex Linked) Klinefelter syndrome is the most common sex

chromosome disorder in malesand the secondmost common condition caused by the presenceof extra chromosomes. The condition exists inroughly 1 out of every 500-650 males.

Principal effects include hypogonadism andreduced fertility. A variety of other physical andbehavioral differences and problems arecommon, though severity varies and many boysand men with the condition have few detectablesymptoms.
http://en.wikipedia.org/wiki/Hypogonadismhttp://en.wikipedia.org/wiki/Fertilityhttp://en.wikipedia.org/wiki/Fertilityhttp://en.wikipedia.org/wiki/Hypogonadism


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Kleinfelters Syndrome


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Polyploidy (Sex Linked) 48,XXYY syndrome is a sex

chromosome anomaly in which males have anextra X and Y chromosome.

The appearance of at least one Y chromosomemakes a male. Therefore, XXYY only affectsmales. Males affected with XXYY syndromehave 48 chromosomes instead of the typical 46

It is estimated that XXYY affects one in every18,000-40,000 male births
http://en.wikipedia.org/wiki/Sex_chromosomehttp://en.wikipedia.org/wiki/Sex_chromosomehttp://en.wikipedia.org/wiki/Sex_chromosomehttp://en.wikipedia.org/wiki/Sex_chromosomehttp://en.wikipedia.org/wiki/Sex_chromosome


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XXYY Syndrome Developmental delays

Speech impairment

Behavior outburst & mood swings

Learning disabilities

Intellectual impairment Autism spectrum disorders

Tall

Scoliosis

Low muscle tone Flat feet

Sterility

Delayed sexual development
http://en.wikipedia.org/wiki/Speech_impairmenthttp://en.wikipedia.org/wiki/Mood_swingshttp://en.wikipedia.org/wiki/Learning_disabilityhttp://en.wikipedia.org/wiki/Intellectual_impairmenthttp://en.wikipedia.org/wiki/Autism_spectrumhttp://en.wikipedia.org/wiki/Scoliosishttp://en.wikipedia.org/wiki/Muscle_tonehttp://en.wikipedia.org/wiki/Flat_feethttp://en.wikipedia.org/wiki/Infertilityhttp://en.wikipedia.org/wiki/Infertilityhttp://en.wikipedia.org/wiki/Flat_feethttp://en.wikipedia.org/wiki/Muscle_tonehttp://en.wikipedia.org/wiki/Scoliosishttp://en.wikipedia.org/wiki/Autism_spectrumhttp://en.wikipedia.org/wiki/Intellectual_impairmenthttp://en.wikipedia.org/wiki/Learning_disabilityhttp://en.wikipedia.org/wiki/Mood_swingshttp://en.wikipedia.org/wiki/Speech_impairment


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XXYY Syndrome


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Polyploidy (Sex Linked) Triple X syndrome is a form

of chromosomal variation characterized by thepresence of an extra X chromosome ineach cell of a human female. The conditionalways produces females, with an XX pair of

chromosomes, as well as an additionalchromosome.

Triple X syndrome most often causes nounusual physical features or medical problems.


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Triple X Syndrome But there are rare cases when a female with

Triple X syndrome is affected by changes suchas tall stature, behavioral problems, clumsiness,poor coordination, midfacial hypoplasia, wide-seteyes, epicanthic fold, amenorrhea, posteriorly

rotated ears, small head, long head, small lowerjaw, expressionless face, prominentforehead, enamel hypoplasia, widely spacednipples, small hands, small

feet, kyphosis, lordosis, reduced muscle tone,ovarian failure, mental retardation, and infertility.There are also signs of learning and speechdisabilities.
http://en.wikipedia.org/wiki/Hypoplasiahttp://en.wikipedia.org/wiki/Epicanthic_foldhttp://en.wikipedia.org/wiki/Amenorrheahttp://en.wikipedia.org/wiki/Enamel_hypoplasiahttp://en.wikipedia.org/wiki/Kyphosishttp://en.wikipedia.org/wiki/Lordosishttp://en.wikipedia.org/wiki/Mental_retardationhttp://en.wikipedia.org/wiki/Infertilityhttp://en.wikipedia.org/wiki/Infertilityhttp://en.wikipedia.org/wiki/Mental_retardationhttp://en.wikipedia.org/wiki/Mental_retardationhttp://en.wikipedia.org/wiki/Mental_retardationhttp://en.wikipedia.org/wiki/Lordosishttp://en.wikipedia.org/wiki/Kyphosishttp://en.wikipedia.org/wiki/Enamel_hypoplasiahttp://en.wikipedia.org/wiki/Enamel_hypoplasiahttp://en.wikipedia.org/wiki/Enamel_hypoplasiahttp://en.wikipedia.org/wiki/Amenorrheahttp://en.wikipedia.org/wiki/Epicanthic_foldhttp://en.wikipedia.org/wiki/Epicanthic_foldhttp://en.wikipedia.org/wiki/Epicanthic_foldhttp://en.wikipedia.org/wiki/Hypoplasia


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Polyploidy (Sex Linked) XXXX syndrome (also called tetrasomy

X, quadruple X, or 48, XXXX) is arare chromosomal disorder caused by the presenceof four X chromosomes. This condition occurs onlyin females, as there are no Y chromosomes present.

Due to the variability of symptoms, some tetrasomyX girls are able to function normally, whereas otherswill need medical attention throughout their lives.Traditionally, treatment for tetrasomy X has beenmanagement of the symptoms and support forlearning. Most girls are placed on estrogentreatment to induce breast development, arrestlongitudinal growth, and stimulate bone formation toprevent osteoporosis.
http://en.wikipedia.org/wiki/Chromosome_abnormalitieshttp://en.wikipedia.org/wiki/X_chromosomehttp://en.wikipedia.org/wiki/X_chromosomehttp://en.wikipedia.org/wiki/X_chromosomehttp://en.wikipedia.org/wiki/X_chromosomehttp://en.wikipedia.org/wiki/Chromosome_abnormalitieshttp://en.wikipedia.org/wiki/Chromosome_abnormalitieshttp://en.wikipedia.org/wiki/Chromosome_abnormalities


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XXXX / Tetrasomy X Symptoms of tetrasomy X are highly variable,

ranging from relatively mild to severe. Physically,tetrasomy X patients tend to have distinctivefacial features such as epicanthal folds, flatnasal bridges, upslanting palpebral fissures,

midface hypoplasia, small mouths, cleft or higharched palates, delayed or absent teeth, orenamel defects. The majority have also beenreported as being longer and taller. Many also

show joint and muscle tone abnormalities,including hypotonia and joint looseness in thehips. Skeletal problems may also be present,including abnormal curvatures of the spine.
http://en.wikipedia.org/wiki/Epicanthal_foldhttp://en.wikipedia.org/wiki/Palpebral_fissurehttp://en.wikipedia.org/wiki/Hypoplasiahttp://en.wikipedia.org/wiki/Cleft_palatehttp://en.wikipedia.org/wiki/Cleft_palatehttp://en.wikipedia.org/wiki/Hypotoniahttp://en.wikipedia.org/wiki/Hypotoniahttp://en.wikipedia.org/wiki/Cleft_palatehttp://en.wikipedia.org/wiki/Cleft_palatehttp://en.wikipedia.org/wiki/Cleft_palatehttp://en.wikipedia.org/wiki/Cleft_palatehttp://en.wikipedia.org/wiki/Cleft_palatehttp://en.wikipedia.org/wiki/Cleft_palatehttp://en.wikipedia.org/wiki/Cleft_palatehttp://en.wikipedia.org/wiki/Cleft_palatehttp://en.wikipedia.org/wiki/Cleft_palatehttp://en.wikipedia.org/wiki/Hypoplasiahttp://en.wikipedia.org/wiki/Palpebral_fissurehttp://en.wikipedia.org/wiki/Palpebral_fissurehttp://en.wikipedia.org/wiki/Palpebral_fissurehttp://en.wikipedia.org/wiki/Epicanthal_foldhttp://en.wikipedia.org/wiki/Epicanthal_foldhttp://en.wikipedia.org/wiki/Epicanthal_fold


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XXXX / Tetrasomy X


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Polyploidy (Sex Linked) XYY syndrome is an aneuploidy (abnormal

number) of the sex chromosomes in whicha human male receives an extra Y-chromosome,giving a total of 47 chromosomes instead of themore usual 46. This produces

a 47,XYY karyotype. 47,XYY boys have an increased risk of learning

difficulties (in up to 50%), and delayed speechand language skills.
http://en.wikipedia.org/wiki/Aneuploidyhttp://en.wikipedia.org/wiki/Sex_chromosomehttp://en.wikipedia.org/wiki/Sex_chromosomehttp://en.wikipedia.org/wiki/Sex_chromosomehttp://en.wikipedia.org/wiki/Sex_chromosomehttp://en.wikipedia.org/wiki/Aneuploidy


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XYY Syndrome Most often, the extra Y-chromosome causes no

unusual physical features or medical problems. 47,XYY boys have an increased growth velocity

during earliest childhood, with an average finalheight approximately 7 cm (3 in) above expectedfinal height.

Testosterone levels (prenatally and postnatally)are normal in 47,XYY males.

Most 47,XYY males have normal sexualdevelopment and usually have normal fertility.


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Polyploidy (Sex Linked) 49, XXXXX syndrome (also called pentasomy

X or 49,XXXXX) is the presence of threeadditional X chromosomes.

Approximately 25 females have been describedin medical literature worldwide with thisextremely rare condition.

XXXXX syndrome causes mental, growth, andmotor retardation. There is occasional delayedpuberty.

Recent observations have indicated an averageof a 10 to 15 IQ point decrease for each extra Xchromosome. Thus, the average IQ of XXXXXindividuals tends to be between 55 and 70.
http://en.wikipedia.org/wiki/X_chromosomehttp://en.wikipedia.org/wiki/X_chromosomehttp://en.wikipedia.org/wiki/X_chromosomehttp://en.wikipedia.org/wiki/X_chromosome


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49, XXXXX Syndrome XXXXX syndrome is associated

with microcephaly (undersizedskull), micrognathia (undersized jaw), and roundface. The ears are generally low-set andmalformed. Eyes are upslanting and show

palpebral fissures, hypertelorism,and strabismus. Usually the nose is shaped witha broad and depressed nasal bridgeand epicanthus, with the mouth having

a cleft and highly arched palate, dentalabnormalities, and thick, furrowed, and evertedlips.
http://en.wikipedia.org/wiki/Microcephalyhttp://en.wikipedia.org/wiki/Micrognathiahttp://en.wikipedia.org/wiki/Palpebral_fissureshttp://en.wikipedia.org/wiki/Hypertelorismhttp://en.wikipedia.org/wiki/Strabismushttp://en.wikipedia.org/wiki/Epicanthushttp://en.wikipedia.org/wiki/Cleft_palatehttp://en.wikipedia.org/wiki/Cleft_palatehttp://en.wikipedia.org/wiki/Epicanthushttp://en.wikipedia.org/wiki/Strabismushttp://en.wikipedia.org/wiki/Hypertelorismhttp://en.wikipedia.org/wiki/Palpebral_fissureshttp://en.wikipedia.org/wiki/Palpebral_fissureshttp://en.wikipedia.org/wiki/Palpebral_fissureshttp://en.wikipedia.org/wiki/Micrognathiahttp://en.wikipedia.org/wiki/Microcephaly


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49, XXXXX Syndrome The heart is usually affected by patent ductus

arteriosus, atrial septal defect, ventricular septaldefect, and aortic dextroposition. There isabnormal lobulation of the lungsand neonatal asphyxia. The ovaries are

abnormally shaped with a small uterus andkidney hypoplasia.

d
http://en.wikipedia.org/wiki/Patent_ductus_arteriosushttp://en.wikipedia.org/wiki/Patent_ductus_arteriosushttp://en.wikipedia.org/wiki/Atrial_septal_defecthttp://en.wikipedia.org/wiki/Ventricular_septal_defecthttp://en.wikipedia.org/wiki/Ventricular_septal_defecthttp://en.wikipedia.org/w/index.php?title=Aortic_dextroposition&action=edit&redlink=1http://en.wikipedia.org/wiki/Lobulationhttp://en.wikipedia.org/wiki/Neonatalhttp://en.wikipedia.org/wiki/Asphyxiahttp://en.wikipedia.org/wiki/Ovarieshttp://en.wikipedia.org/wiki/Hypoplasiahttp://en.wikipedia.org/wiki/Hypoplasiahttp://en.wikipedia.org/wiki/Ovarieshttp://en.wikipedia.org/wiki/Asphyxiahttp://en.wikipedia.org/wiki/Neonatalhttp://en.wikipedia.org/wiki/Lobulationhttp://en.wikipedia.org/w/index.php?title=Aortic_dextroposition&action=edit&redlink=1http://en.wikipedia.org/w/index.php?title=Aortic_dextroposition&action=edit&redlink=1http://en.wikipedia.org/w/index.php?title=Aortic_dextroposition&action=edit&redlink=1http://en.wikipedia.org/wiki/Ventricular_septal_defecthttp://en.wikipedia.org/wiki/Ventricular_septal_defecthttp://en.wikipedia.org/wiki/Ventricular_septal_defecthttp://en.wikipedia.org/wiki/Ventricular_septal_defecthttp://en.wikipedia.org/wiki/Ventricular_septal_defecthttp://en.wikipedia.org/wiki/Atrial_septal_defecthttp://en.wikipedia.org/wiki/Atrial_septal_defecthttp://en.wikipedia.org/wiki/Atrial_septal_defecthttp://en.wikipedia.org/wiki/Atrial_septal_defecthttp://en.wikipedia.org/wiki/Atrial_septal_defecthttp://en.wikipedia.org/wiki/Patent_ductus_arteriosushttp://en.wikipedia.org/wiki/Patent_ductus_arteriosushttp://en.wikipedia.org/wiki/Patent_ductus_arteriosushttp://en.wikipedia.org/wiki/Patent_ductus_arteriosushttp://en.wikipedia.org/wiki/Patent_ductus_arteriosus


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49, XXXXX Syndrome

chromosomes and chromosome abnormalities

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