Translocation (1;22) in a child with bilateral oblique facial clefts.

Abstract

An eight month old girl was born with symmetrical bilateral oblique facial clefts and calcaneovarus foot deformity. CT scan of the head showed severe bilateral ocular hypoplasia and normal brain parenchyma. Peripheral blood karyotype showed a de novo balanced translocation between a chromosome 1 and 22. A submicroscopic imbalance secondary to this translocation cannot be ruled out. The pattern of the observed anomalies will help distinguish between oblique facial clefts and amniotic band disruption. Chromosomal studies should be performed in children with such rare malformations.

• Authors: M Dasouki, M Barr Jr, R P Erickson, B Cox
• Journal: Journal of medical genetics (J Med Genet) Vol. 25 Issue 6 Pg. 427-9 (Jun 1988) ISSN: 0022-2593 [Print] England
• PMID: 3398011 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (genetics)
• Chromosomes, Human, Pair 1
• Chromosomes, Human, Pair 22
• Face (abnormalities)
• Female
• Humans
• Infant, Newborn
• Translocation, Genetic