USMLE Step 2 CK Lecture Notes 2019: Obstetrics/Gynecology (Kaplan Test Prep)

Table I-1-9. Genetic    Syndromes

Name Karyotype Stature IQ Unique Finding

Klinefelter 47,XXY Tall Decreased IQ Microgenitals, infertility

Turner 45,X Short Normal IQ Web neck, coarctation aorta

Down T21 Short Functional intellectual
disability

Duodenal    atresia,    AV  canal

defect

Edward T18 Short Severe intellectual disability Abnormal feet, fist

Patau T13 Short Profound intellectual
disability

Holoprosencephaly,  cyclops

include IUGR,   cyclopia,   proboscis,  holoprosencephaly,  and severe  cleft   lip

with    palate. Survival    to  age 1   year    is  rare,   with    mean    survival    2   days.