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: Mary J Seller, Shehla Mohammed, Jo Russell, Caroline Ogilvie
• Journal: Clinical dysmorphology (Clin Dysmorphol) Vol. 11 Issue 2 Pg. 113-5 (Apr 2002) ISSN: 0962-8827 [Print] England
• PMID: 12002140 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (genetics)
• Adolescent
• Chromosomes, Human, Pair 22
• Facies
• Female
• Humans
• Meningocele (genetics)
• Pregnancy
• Sequence Deletion
• Spinal Dysraphism (genetics)
• Syndrome