Document Detail


Narrowing the candidate region of Albright hereditary osteodystrophy-like syndrome by deletion mapping in a patient with an unbalanced cryptic translocation t(2;6)(q37.3;q26).
MedLine Citation:
PMID:  12966529     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We here describe a submicroscopic translocation affecting the subtelomeric regions of chromosomes 2q and 6q identified in a patient referred to us because of mental retardation, obesity, brachydactyly, and short stature. FISH analysis using subtelomeric probes showed a 46,XY,der(2)t(2;6)(q37.3;q26) in the propositus, and a balanced t(2;6) in his father and sister. FISH with region-specific genomic clones made it possible to map the 2q37.3 breakpoint precisely to the region covered by BAC 585E12, and the 6q26 breakpoint to between the regions encompassed by 414A5 and 480A20. The 2q subtelomeric deletion has often been found in patients with Albright hereditary osteodystrophy (AHO)-like syndrome but, to the best of our knowledge, the 2q37.3-qter monosomy ascertained in our patient is the smallest so far described within the syndrome's critical interval, and may thus enhance the search for the responsible genes.
Authors:
Daniela Giardino; Palma Finelli; Giulietta Gottardi; Gabriella De Canal; Matteo Della Monica; Fortunato Lonardo; Gioacchino Scarano; Lidia Larizza
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  122A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2003 Oct 
Date Detail:
Created Date:  2003-09-10     Completed Date:  2004-04-22     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  261-5     Citation Subset:  IM    
Copyright Information:
Copyright 2003 Wiley-Liss, Inc.
Affiliation:
Laboratorio di Citogenetica, Istituto Auxologico Italiano, Via Ariosto 13, 20145 Milan, Italy. giardino@auxologico.it
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*,  pathology
Child
Chromosome Mapping
Chromosomes, Human, Pair 2 / genetics*
Chromosomes, Human, Pair 6 / genetics*
Fibrous Dysplasia, Polyostotic / pathology*
Hand Deformities, Congenital / pathology
Humans
In Situ Hybridization, Fluorescence
Male
Mental Retardation / pathology*
Microsatellite Repeats
Obesity / pathology
Syndrome
Translocation, Genetic*

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


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