Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes.
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.
Bernardini
Laura
L
CSS-Hospital, San Giovanni Gotondo and CSS-Mendel Institute, Rome, Italy. l.bernardini@css-mendel.it
Palka
Chiara
C
Ceccarini
Caterina
C
Capalbo
Anna
A
Bottillo
Irene
I
Mingarelli
Rita
R
Novelli
Antonio
A
Dallapiccola
Bruno
B
D002675:Child, Preschool; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7; D002898:Chromosomes, Human, Pair 8; D003638:Deafness / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005532:Foot Deformities, Congenital / Q000175:diagnosis / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006228:Hand Deformities, Congenital / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D009687:Nuclear Proteins / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics
D009687:Nuclear Proteins; D014157:Transcription Factors; C498432:ZFPM1 protein, human