Document Detail


Duplication of the Rubinstein-Taybi region on 16p13.3 is associated with a distinctive phenotype.
MedLine Citation:
PMID:  18688873     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report on a 16-year-old girl with a multiple congenital anomalies/mental retardation condition, in which a 1.7 Mb tandem duplication of chromosome region 16p13.3 was detected by array-CGH. Mental retardation was moderate (IQ 45), with very limited speech. She had tall stature with relative microcephaly. Clinical manifestations included distinctive facial appearance with deep set eyes, narrow palpebral fissures, wide nasal bridge, long philtrum, rounded nasal tip, thin upper lip, protruding mandible and abnormal auricles, hand and foot anomalies. The causal 16p13.3 duplication is one of the smallest reported so far, and includes the CBP gene, whose haploinsufficiency is responsible for the Rubinstein-Taybi syndrome. By comparing clinical manifestations of our patient with those of patients carrying similar rearrangements, we could infer that 16p13.3 microduplications encompassing the Rubinstein-Taybi region result in a recognizable clinical condition, most likely representing a single gene disorder.
Authors:
Giuseppe Marangi; Vincenzo Leuzzi; Daniela Orteschi; Maria E Grimaldi; Rosetta Lecce; Giovanni Neri; Marcella Zollino
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  146A     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2008 Sep 
Date Detail:
Created Date:  2008-09-01     Completed Date:  2008-09-11     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2313-7     Citation Subset:  IM    
Copyright Information:
Copyright 2008 Wiley-Liss, Inc.
Affiliation:
Istituto di Genetica Medica, Università Cattolica del Sacro Cuore, Roma, Italy.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
CREB-Binding Protein / genetics*
Chromosome Mapping
Chromosomes, Human, Pair 16 / genetics*
Face / abnormalities
Female
Gene Dosage
Gene Duplication*
Hand Deformities, Congenital / genetics
Humans
Mental Retardation / genetics*
Oligonucleotide Array Sequence Analysis
Phenotype
Rubinstein-Taybi Syndrome / genetics*
Chemical
Reg. No./Substance:
EC 2.3.1.48/CREB-Binding Protein

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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