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Complex rearrangement of chromosomes 7q21.13‐q22.1 confirms the ectrodactyly‐deafness locus and suggests new candidate genes
Author(s) -
Bernardini Laura,
Palka Chiara,
Ceccarini Caterina,
Capalbo Anna,
Bottillo Irene,
Mingarelli Rita,
Novelli Antonio,
Dallapiccola Bruno
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32093
Subject(s) - ectrodactyly , locus (genetics) , biology , candidate gene , genetics , breakpoint , chromosomal translocation , chromosomal rearrangement , craniofacial , craniofacial abnormality , chromosomal inversion , tetralogy of fallot , karyotype , gene duplication , chromosome , gene , medicine , pathology , ectodermal dysplasia , heart disease
Complex chromosomal rearrangements with more than two breakpoints are rare. We report on a 5‐year‐old girl, evaluated because of psychomotor delay, ectrodactyly of right hand and feet, craniofacial dysmorphic features, cleft palate, deafness, and tetralogy of Fallot. A standard karyotype suggested a small intrachromosomal duplication of chromosome 7q. The chromosomal rearrangement was characterized by mBAND, which disclosed a reciprocal interstitial translocation t(7;8)(q21q22;q23q24). FISH analysis and array‐CGH analysis showed a paracentric inversion of 7q and a microdeletion of 7q21.13. The parents had normal chromosomes. The deletion found in the present patient confirms that candidate region of ectrodactyly‐deafness (OMIM 220600) maps to 7q21 and suggests new candidate genes for that disorder. This patient also had facial features reminiscent of tricho‐rhino‐phalangeal syndrome and one chromosome breakpoint involved band 8q24, a locus for this disorder. In addition, FOG1 gene maps to 8q23 and has been implicated in a subset of subjects with tretralogy of Fallot. We suggest that the aberration of 8q may have contributed to her facial and cardiac findings. © 2007 Wiley‐Liss, Inc.