Genetics Flashcards
What is on the quadruple screen?
AFP, unconjugated estriol/ue3, inhibin A, B-HCG
Trisomy 21 is characterized by which tests & levels?
low ue3, low AFP, high B-HCG, high inhibin A
What is the most common sex chromosome abnormality?
Klinefelter’s syndrome
Most common autosomal chromosomal abnormality?
Down Syndrome
The MCC mental retardation in males is?
Fragile X syndrome
Characteristics of Turner’s syndrome?
X0/monosomy X, females, webbed neck, short, shield chest, elbow deformities, nevi, no breast development, amenorrhea
Characteristics of Klinfelter’s?
XXY, males, small genitals, no body hair, female fat, infertile, may have developmental delay, tall/slim
Characteristics of DiGeorge syndrome?
chrom 22, malformations of heart/thymus/parathyroid, micrognathia, ears, heart defects, poor immunity, Tx w/Ca+
Fragile X characteristics
1 in 1000 males, autism, seizures, long face, lg ears/testicles/head, hyperactive
Angelman Syndrome
chrom 15, blue eyes, blonde hair, lg mouth, spaced teeth, “happy puppet,” absent speech, seizure d/o, retardation
When do you objectively screen kids for hearing loss?
objectively: birth, 4, 5, 6, 8, 10, 12, 15, 18yrs (subjectively from parents)
What is holoprosencephaly?
failure of forebrain/proencephalon to form during fetal development resulting in brain/facial abnormalities
What is lissencephaly?
brain abnormality characterized by no convolutions in cortex (aka smooth brain), d/t failure of neural migration
Characteristics of William’s Syndrome?
staryy blue eyes, outgoing personality, mild mental retardation, sensitive to sound,l ong philtrum, chrom 7, congenital heart abn
Characteristics of Prader-Willi
chrom 15, insatiable appetite/obesity, small penis/hands/feet, short, orthopedic problems, treat w/GH + testosterone
