ausblenden:
Schlagwörter:
Abnormalities, Multiple/*genetics/pathology; Chromosome Deletion; Chromosomes, Human, Pair 14/genetics; Developmental Disabilities/*genetics/pathology; Heart Defects, Congenital/*genetics/pathology; Humans; In Situ Hybridization, Fluorescence; Male; *Phenotype; Plagiocephaly/*genetics/pathology
Zusammenfassung:
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), and congenital heart defect. The deletion breakpoints were fine mapped using fluorescence in situ hybridization (FISH) and the size of the deletion is estimated to be approximately 23 Mb. Based on genotype-phenotype comparisons of the 10 previously published patients and the present case, we suggest that the shortest regions for deletion overlap may include candidate genes for speech impairment, mental retardation, and hypotonia.
