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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region
European Journal of Medical Genetics, Volume 49, No. 3, Year 2006
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Description
Deletions of the 2q37 region are associated with a recognizable pattern of MCA/MR so-called the AHO-like syndrome. Brachydactyly is a variable but characteristic feature of this clinical entity. Here we report on five cases of cytogenetically visible de novo deletions of this 2q37 chromosome region. Using FISH, we characterized at the molecular level the breakpoints of these deletions using a set of 15 BACs, PACs and YACs. In four patients, terminal deletions of variable size ranged between 6.2 and 10 Mb. The fifth patient had an interstitial deletion with an AHO-like phenotype including brachydactyly. These findings when compared to previous observations allowed us to narrow down the brachydactyly critical region between BACs RP11-585E12 and RP11-351E10. It contains HDAC4 and STK25 candidate genes loci. © 2005 Elsevier SAS. All rights reserved.
Authors & Co-Authors
Chaabouni, Myriam
France, Paris
Hôpital Necker Enfants Malades
Tunisia, Tunis
Faculté de Médecine de Tunis
Le Merrer, Martine F.
France, Paris
Hôpital Necker Enfants Malades
Raoul, Odile
France, Paris
Hôpital Necker Enfants Malades
Prieur, Marguerite
France, Paris
Hôpital Necker Enfants Malades
de Blois, Marie Christine
France, Paris
Hôpital Necker Enfants Malades
Philippe, A.
France, Paris
Hôpital Necker Enfants Malades
Vekemans, Michel J.J.
France, Paris
Hôpital Necker Enfants Malades
Romana, Serge Pierrick
France, Paris
Hôpital Necker Enfants Malades
Statistics
Citations: 29
Authors: 8
Affiliations: 2
Identifiers
Doi:
10.1016/j.ejmg.2005.07.001
ISSN:
17697212
Research Areas
Health System And Policy