Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes
✍ Scribed by Laura Bernardini; Chiara Palka; Caterina Ceccarini; Anna Capalbo; Irene Bottillo; Rita Mingarelli; Antonio Novelli; Bruno Dallapiccola
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 352 KB
- Volume
- 146A
- Category
- Article
- ISSN
- 1552-4825
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✦ Synopsis
Abstract
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.