Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements | Zendy

Boyan Dimitrov | Zendy; Thomy de Ravel | Zendy; J Van Driessche | Zendy; Christine de DieSmulders | Zendy; Annick Toutain | Zendy; Joris Vermeesch | Zendy; J. P. Fryns | Zendy; Koenraad Devriendt | Zendy; P. Debeer | Zendy

Open Access

Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements

Author(s) -

Boyan Dimitrov,

Thomy de Ravel,

J Van Driessche,

Christine de DieSmulders,

Annick Toutain,

Joris Vermeesch,

J. P. Fryns,

Koenraad Devriendt,

P. Debeer

Publication year - 2009

Publication title -

journal of medical genetics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.439

H-Index - 170

eISSN - 1468-6244

pISSN - 0022-2593

DOI - 10.1136/jmg.2008.065888

Subject(s) - gene duplication , locus (genetics) , biology , genetics , comparative genomic hybridization , hypoplasia , copy number variation , chromosome , chromosome 15 , gene , anatomy , genome

The 10q24 chromosomal region has previously been implicated in split hand foot malformation (SHFM). SHFM3 was mapped to a large interval on chromosome 10q. The corresponding dactylaplasia mouse model was linked to the syntenic locus on chromosome 19. It was shown that the two existing Dac alleles result from MusD-insertions upstream of or within Dactylin (Fbxw4). However, all efforts to find the underlying cause for the human SHFM3 have failed on the analysis of all the genes within the linkage region. Intriguingly a submicroscopic duplication within the critical locus on chromosome 10q24 was associated with the phenotype.

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