De novo interstitial long arm deletion of chromosome 3 with facial dysmorphism, Dandy-Walker variant malformation and hydrocephalus.

Abstract

We report an 8-year-old girl with coarse facial features, macrocrania and developmental delay. Cranial anomalies in the form of hydrocephalus and Dandy-Walker (DW) variant malformation were detected on neuro-imaging. Karyotyping revealed a de novo interstitial deletion of bands 3q25.1 to 3q25.33. Deletion of the 3q24-q26 region appears to be associated with a somewhat similar constellation of findings of craniofacial dysmorphism (broad and depressed nasal bridge and low set posteriorly rotated ears), mental retardation, congenital heart defects, and central nervous system malformations.

• Authors: T Sudha, A J Dawson, A N Prasad, D Konkin, G W de Groot, C Prasad
• Journal: Clinical dysmorphology (Clin Dysmorphol) Vol. 10 Issue 3 Pg. 193-6 (Jul 2001) ISSN: 0962-8827 [Print] England
• PMID: 11446413 (Publication Type: Case Reports, Journal Article)

Topics

• Child
• Chromosome Deletion
• Chromosomes, Human, Pair 3
• Craniofacial Abnormalities (genetics)
• Dandy-Walker Syndrome (genetics)
• Developmental Disabilities (genetics)
• Female
• Humans