Detailed Characterization of, and Clinical Correlations in, 10 Patients with Distal Deletions of Chromosome 9p
Department
Molecular and Cellular Biology
Document Type
Article
Publication Date
8-2008
Abstract
Purpose: Deletions of distal 9p are associated with trigonocephaly, mental retardation, dysmorphic facial features, cardiac anomalies, and abnormal genitalia. Previous studies identified a proposed critical region for the consensus phenotype in band 9p23, between 11.8 Mb and 16 Mb from the 9p telomere. Here we report 10 new patients with 9p deletions; 9 patients have clinical features consistent with 9p- syndrome, but possess terminal deletions smaller than most reported cases, whereas one individual lacks the 9p- phenotype and shows a 140-kb interstitial telomeric deletion inherited from his mother.
Methods: We combined fluorescence in situ hybridization and microarray analyses to delineate the size of each deletion.
Results: The deletion sizes vary from 800 kb to 12.4 Mb in our patients with clinically relevant phenotypes. Clinical evaluation and comparison showed little difference in physical features with regard to the deletion sizes. Severe speech and language impairment were observed in all patients with clinically relevant phenotypes.
Conclusion: The smallest deleted region common to our patients who demonstrate a phenotype consistent with 9p- is <2 Mb of 9pter, which contains six known genes. These genes may contribute to some of the cardinal features of 9p deletion syndrome.
Journal Title
Genetics in Medicine
Journal ISSN
1530-0366
Volume
10
First Page
599
Last Page
611
Digital Object Identifier (DOI)
10.1097/GIM.0b013e31817e2bde