Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects.

Abstract excerpt

Distal interstitial deletions of chromosome 14 involving the 14q24-q23.2 region are rare, and only been reported so far in 20 patients. Ten of these patients were analyzed both clinically and genetically. Here we present a de novo interstitial deletion of chromosome 14q24.3-q32.2 in a male patient with developmental delay, language impairment, plagiocephaly, BPES features (blepharophimosis, ptosis, epicanthus),...

Topics

• Abnormalities, Multiple
• Chromosome Deletion
• Chromosomes, Human, Pair 14
• Developmental Disabilities
• Heart Defects, Congenital
• Humans
• In Situ Hybridization, Fluorescence
• Male
• Phenotype
• Plagiocephaly