title: Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region.
abstract: 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.
authors.affiliation: Département de Génétique, Hôpital Necker-Enfants-Malades, 149, rue de Sèvres, 75743 Paris cedex 15, France.
authors.forename: M
authors.initials: M
authors.lastname: Chaabouni
authors.forename: M
authors.initials: M
authors.lastname: Le Merrer
authors.forename: O
authors.initials: O
authors.lastname: Raoul
authors.forename: M
authors.initials: M
authors.lastname: Prieur
authors.forename: M C
authors.initials: MC
authors.lastname: de Blois
authors.forename: A
authors.initials: A
authors.lastname: Philippe
authors.forename: M
authors.initials: M
authors.lastname: Vekemans
authors.forename: S P
authors.initials: SP
authors.lastname: Romana
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006655:Histone Deacetylases / Q000235:genetics; D006801:Humans; D008297:Male; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D012097:Repressor Proteins / Q000235:genetics
chemical_list: D012097:Repressor Proteins; D017346:Protein Serine-Threonine Kinases; C400300:HDAC4 protein, human; D006655:Histone Deacetylases