autosomal aberrations

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AUTOSOMAL Aberrations CRISTOBAL, Erica Joyce B. JARABE, Renee Beatriz P. AAPD2B

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Autosomal Aberrations made by CRISTOBAL, Erica Joyce B. and JARABE, Renee Beatriz P. AAPD2B

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Page 1: Autosomal Aberrations

AUTOSOMALAberrations

CRISTOBAL, Erica Joyce B.JARABE, Renee Beatriz P.AAPD2B

Page 2: Autosomal Aberrations

OBJECTIVESAt the end of the unit, the students should be able to:

1. Understand the importance of human karyotyping2. Characterize individuals with sex chromosome

aberrations3. Differentiate the types of autosomal aberrations,

and4. Illustrate and explain the different structural

abnormalities

UNIT V. Human Chromosomes and Chromosome Behavior

Page 3: Autosomal Aberrations

CHROMOSOMAL ABERRATIONS / ABNORMALITIES* * *

*It is the disruptions in the normal chromosomal content of a cell.

*Originates as a result of an error during meiosis (Non-Disjunction), specifically in ANAPHASE stage.

* * *

Page 4: Autosomal Aberrations

Wolf-Hirschhorn Syndrome

Page 5: Autosomal Aberrations

DELETION of the short arm of chromosome 4.

Physical Characteristics:*Short Philtrum*Immunodeficient*Microcephaly (Small Head Size)*Seizures *Muscle Hypotonia*Renal Anomalies*Deafness

Page 6: Autosomal Aberrations

Cri du chat

Page 7: Autosomal Aberrations

DELETION on the short arm of chromosome 5.

Cries like a CAT.

Physical Characteristics:*Excessive Drooling*Behavioral Problems*Often Mental Retarded*Exhibits Gastorintestinal and

Cardiac Complications*Abnormal Development of

Larynx and Glottis

Page 8: Autosomal Aberrations

Jacobsen’s syndrome

Page 9: Autosomal Aberrations

is a condition caused by the DELETION of a terminal region of chromosome 11.

Physical Characteristics:*Bleeding Disorder*Heart Defects*Wide Set Eyes*Low Ser Misshapen Ears*Large Toes

Page 10: Autosomal Aberrations

Pallister-killian syndrome

Page 11: Autosomal Aberrations

TETRASOMY in the smaller arm of chromosome 12.

2n+2 or 48 chromosomes

Physical Characteristics:*Hypo/Hyper Pigmentation*Epilepsy*High Foreheads*Flat nose*Supernumerary Nipples*Psychomotor Retardation

Page 12: Autosomal Aberrations

Patau syndrome

Page 13: Autosomal Aberrations

TRISOMIC in the chromosome 13.

47 chromosomes

Physical Characteristics:*Polydactyl*Cleft Palate*Cutis aplasia*Kidney Failures

Page 14: Autosomal Aberrations

IDIC 15 (Isodi Centic 15)

Page 15: Autosomal Aberrations

With extra genetic material in chromosome 15.

47 chromosomes

Physical Characteristics:*Epicanthal Folds in the Eye*Short Stature*Delayed Language Development*Seizures*Some are Mentally Retarded

Page 16: Autosomal Aberrations

Edward’s syndrome

Page 17: Autosomal Aberrations

TRISOMY 18.

Physical Characteristics:*Upturned Nose*Kidney Malformations*Omphalocele*Arthrogryposis*Microcephaly*Underdeveloped Phalanges

Page 18: Autosomal Aberrations

Down Syndrome

Page 19: Autosomal Aberrations

With extra genetic material in chromosome 15.47 chromosomes

Physical Characteristics:*Epicanthal Folds in the Eye*Short Stature*Delayed Language Development*Seizures*Some are Mentally Retarded

Page 20: Autosomal Aberrations

Cat eye syndrome

Page 21: Autosomal Aberrations

TRISOMY/TETRASOMY 22.

Physical Characteristics:*Iris Coloboma*Slant Opening of the Eyelids*Abnormal Obstruction of the Anus*Scoliosis*Hernias