autosomal aberrations
DESCRIPTION
Autosomal Aberrations made by CRISTOBAL, Erica Joyce B. and JARABE, Renee Beatriz P. AAPD2BTRANSCRIPT
AUTOSOMALAberrations
CRISTOBAL, Erica Joyce B.JARABE, Renee Beatriz P.AAPD2B
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
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.
* * *
Wolf-Hirschhorn Syndrome
DELETION of the short arm of chromosome 4.
Physical Characteristics:*Short Philtrum*Immunodeficient*Microcephaly (Small Head Size)*Seizures *Muscle Hypotonia*Renal Anomalies*Deafness
Cri du chat
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
Jacobsen’s syndrome
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
Pallister-killian syndrome
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
Patau syndrome
TRISOMIC in the chromosome 13.
47 chromosomes
Physical Characteristics:*Polydactyl*Cleft Palate*Cutis aplasia*Kidney Failures
IDIC 15 (Isodi Centic 15)
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
Edward’s syndrome
TRISOMY 18.
Physical Characteristics:*Upturned Nose*Kidney Malformations*Omphalocele*Arthrogryposis*Microcephaly*Underdeveloped Phalanges
Down Syndrome
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
Cat eye syndrome
TRISOMY/TETRASOMY 22.
Physical Characteristics:*Iris Coloboma*Slant Opening of the Eyelids*Abnormal Obstruction of the Anus*Scoliosis*Hernias