A case report of 22q11 deletion syndrome confirmed by array-CGH method.

摘要: Velo-cardio-facial syndrome (VCFS) is caused by a submicroscopic deletion on the long arm of chromosome 22 and affects approximately 1 in 4000 persons, making it second most prevalent genetic after Down common associated with cleft palate. Most 22q11.2 cases are new occurrences or sporadic; however, about 10 % families, inherited other family members affected at risk for passing this to their children. This report describes 1.5 years-old male child clinical signs velo-cardio-facial presented heart defect, soft palate, developmental delay, acrocephaly, seizure, MRI abnormalities descriptive facial feature, such as hypertelorism. Array-CGH test was done confirm diagnosis; result revealed 2.6 Mbp that containing TBX1 COMT genes. Our data suggest haploinsufficiency gene probably major contributor some characteristic signs, defect. Because delay dysmorphic feature were observed index's mother relatives, autosomal dominant form VCF probable, MLPA (multiplex ligation-dependent probe amplification) should be performed parents estimate recurrent next pregnancy.