List the 4 microdeletion syndromes
2. Velocardiofacial syndrome
What causes cri-du-chat?
Microdeletion of short arm of chromosome 5
What causes Williams syndrome?
Microdeletion of long arm on chromosome 7, which includes elastin gene
What are the 22q11 deletion syndromes?
46 X,Y/X,X -5p
Hypercalcemia + well-developed verbal skills + cardiac defects + "elfin" facies + intellectual diasbility
Thymic aplasia + parathyroid aplasia + cardiac defects
Microcephaly + severe intellectual disability + high-pitched crying + VSD + epicanthal folds
DiGeorge and velocardiofacial syndromes are due to abnormal development of:
3rd and 4th pharyngeal pouches
What causes the hypercalcemia in Williams syndrome?
Sensitivity to vitamin D
Extreme friendliness with strangers
Williams syndrome (microdeletion of long arm of chromosome 7)
Cleft lip/palata + cardiac defects + abnormal facies