22q11 Deletion Syndrome Flashcards
What is the classic phenotype of di George syndrome?
- Increased TOF with APV
- Decreased T cell immunity
- Submucosal cleft palate
- High arch palate and bifid uvula
What ultrasound abnormalities would make you suspect a 22q11 deletion?
- Tet with APV and truncus arteriosus
- Palatal abnormality
- Micrognathia
- Thymic hypoplasia
- Hypertelorism
- Prominent broad nasal bridge
How is 22q11 deletion syndrome inherited?
Autosomal dominant
If you perform an amniocentesis, what studies will you send on the amniotic fluid to test for 22q11 deletion syndrome?
Direct FISH
CMA
What are the pitfalls of using cell free DNA screening in cases of suspected fetal 22q11 deletion syndrome?
Maternal contamination
False positive
NIPT is not good at detecting micro deletions
What percentage of fetuses with 22q11 deletion syndrome will have a cardiac effect on ultrasound?
74% cardiac
What percentage of fetuses with 22q11 deletion syndrome will have a palatal abnormalities on ultrasound?
69% palatal abnormalities
What percentage of fetuses with 22q11 deletion syndrome will have learning disability?
70-90% learning disability
What percentage of fetuses with 22q11 deletion syndrome will have an immune deficiency?
77% immune deficiency
What percentage of fetuses with 22q11 deletion syndrome will have neuropsychiatric/schizophrenia?
1-2%
What is the most common cardiac defect identified in 22q11 deletion syndrome?
conotruncal malformations
What non-cardiac issues can be found in individuals with 22q11 deletion syndrome?
- Learning disability
- Palate abnormalities
- Immune system abnormalities
- Seizures
- Schizophrenia
- Hearing loss
- Long fingers/toes
- Renal problems
- Feeding problems
- Growth hormone deficiency
