Chapter 12 - Clinical correlations Flashcards
Wolf-Hirschorn Syndrome
deletion 4p ( 4p16.3)
Cri du Chat Syndrome
Deletion 5p
Williams(-Beuren) Syndrome
7q11.23 deletion
Smith-Magenis Syndrome
17p11.2 deletion
Angelman Syndrome
15q11.2 (maternal deletion in 2/3 cases)
Prader-Willi Syndrome
15q11.2 (Paternal deletion in 2/3 cases)
DiGeorge Syndrome
22q11.2 deletion
Most common trisomy (including abortuses)
trisomy 16
Trisomies most often found in live births
13, 18, 21
What is the most likely outcome of prenatally detected mosaic trisomy 20?
normal baby
What trisomy includes these symptoms: “rocker-bottom” feet, heart abnormalities, low set misshapen ears, severe mental retardation
trisomy 18
A “greek warrior helmet” appearance is characteristic of which deletion syndrome?
Del(4p) Wolf-Hirschorn
Pallister-mosaic syndrome
triplication 12p
Phenotype: Hypercalcemia, elfin features, kidney abnormalities, heart problems, severe - moderate intellectual disability
Williams syndrome
CATCH22:
- cardiac abnormalities
- abnormal facial features
- t-cell deficit
- cleft palate
- hypocalcemia
DiGeorge Syndrome
Smith-Magenis Syndrome phenotype
Brachyldactyly (short fingers/toes), heart defects, renal abnormalities, intellectual delay
Phenotype: lissencephaly (smooth brain), severe intellectual delay, prominent forehead, upturned nose
Miller-Dieker Syndrome
Miller-Dieker Syndrome
del(17p13.3)
Trisomy 13 (aka Patau Syndrome)
heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia), extra fingers or toes, cleft lip
heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia), extra fingers or toes, cleft lip
Trisomy 13
Wolf Hirschorn syndrome phenotype
characteristic facial appearance, delayed growth and development, intellectual disability , low muscle tone ( hypotonia ), and seizures .
Most common trisomies in CPM
2,3,7,8,16
Type I CPM
cytotrophoblast
Type II CPM
stroma
Type III CPM
trophoblast and stroma
