title: Microdeletion 22q11.2, Kousseff syndrome and spina bifida.
abstract: A fetus was diagnosed on ultrasound scan as having sacral spina bifida and a ventricular septal defect in the heart. At postmortem examination the cardiac defect was found to be a conotruncal abnormality, and there was a cleft palate, some facial dysmorphism as well as the spina bifida. A diagnosis of Kousseff syndrome was made, but detailed cytogenetics subsequently revealed a 22q11.2 deletion. In the light of these findings, and on review of the literature, we suggest that spina bifida is recognized as a feature of the variable phenotype associated with this microdeletion.
authors: The Division of Medical and Molecular Genetics, The Guy's, King's and St Thomas' School of Medicine and Dentistry, London, UK. mary.seller@kcl.ac.uk
authors: Mary J
authors: MJ
authors: Seller
authors: Shehla
authors: S
authors: Mohammed
authors: Jo
authors: J
authors: Russell
authors: Caroline
authors: C
authors: Ogilvie
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D002892:Chromosomes, Human, Pair 22; D019066:Facies; D005260:Female; D006801:Humans; D008588:Meningocele / Q000235:genetics; D011247:Pregnancy; D017384:Sequence Deletion; D016135:Spinal Dysraphism / Q000235:genetics*; D013577:Syndrome