Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p.
OBJECTIVE
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.


CONCLUSIONS
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.
Hauge
Xueya
X
Department of Biology and Physics, Kennesaw State University, Kennesaw, Georgia.
Raca
Gordana
G
Cooper
Sara
S
May
Kristin
K
Spiro
Rhonda
R
Adam
Margaret
M
Martin
Christa Lese
CL
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D046228:Microarray Analysis; D010641:Phenotype; D013577:Syndrome