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Terminal 14q32.33 deletion: Genotype–phenotype correlation
Author(s) -
Maurin ML.,
Brisset S.,
Le Lorc'h M.,
Poncet V.,
Trioche P.,
Aboura A.,
Labrune P.,
Tachdjian G.
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31438
Subject(s) - subtelomere , psychomotor retardation , hypotonia , genetics , genotype phenotype distinction , chromosome , phenotype , biology , karyotype , terminal (telecommunication) , long arm , genotype , medicine , gene , pathology , telecommunications , alternative medicine , computer science
We report on a female infant presenting with psychomotor retardation and facial dysmorphism. Cytogenetic studies showed an abnormal chromosome 14 with ectopic NOR sequences at the extremity of the long arm with a terminal 14q32.33 deletion. Review of the eight cases with pure terminal 14q32.3 deletions described to date documented that our observation is the smallest terminal 14q deletion ever reported. Thus, genotype–phenotype correlation allows us to delimit the critical region for mental retardation, hypotonia, epi‐telecanthus, short bulbous nose, long philtrum, thin upper lip, and small mouth observed in 14 qter deletions to the subtelomeric 1.6 Mb of chromosome 14. © 2006 Wiley‐Liss, Inc.