Chromosomal Disorders

Question 1

Trisomy 13

Answer 1

Patau Syndrome

• Most severe birth defects
  -intellectual disability
  -Microcephaly
  -Heart Defects

Audio. Finding’s:
-Abnormal Helices
-Hearing Not evaluated (Low survival rate)

Question 2

Trisomy 18

Answer 2

Edwards Syndrome

-Intellectual disability
-small mouth, arched palate
-clenched hands, heart defects

Audio. Finding’s:
-Malformed/lowset pinna
-Failed ossification of ossicles, underdeveloped cochlear development
-hearing impaired or deaf

Question 3

Trisomy 21

Answer 3

Down-Syndrome

• universal intellectual and developmental disabilities
  -IQ lowers with age
  -flat facial features, large tongue, and short limbs.

Audio. features:
-low set pinna
-stenotic ear canals
-Hearing loss can be any type
-Cerumen impaction typical

Question 4

Trisomy 21 Types of Inheritance

Answer 4

Nondisjunction: Additional chromosomes present during separation failure

Translocation: Acrocentric centromeres split and conjoin with short arms disappearing and q arms combining.

Mosaicism: Nondisjunction of 1 not all initial cell divisions. (single fertilized egg with 2 different genotypes - women)

Question 5

Turner’s Syndrome

Question 6

Klinefelter’s Syndrome

Question 7

Ring Chromosomes