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Cytogenomic and phenotypic analysis in low‐level monosomy 7 mosaicism with non‐supernumerary ring chromosome 7
Author(s) -
SalasLabadía Consuelo,
CervantesBarragán David E.,
CruzAlcívar Roberto,
Daber Robert D.,
Conlin Laura K.,
Leonard Laura D.,
Spinner Nancy B.,
DuránMcKinster Carola,
DávilaOrtíz de Montellano David J.,
Del CastilloRuiz Victoria,
PérezVera Patricia
Publication year - 2014
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.36503
Subject(s) - ring chromosome , monosomy , biology , genetics , small supernumerary marker chromosome , supernumerary , marker chromosome , chromosome , comparative genomic hybridization , chromosome 7 (human) , karyotype , gene , anatomy
We present the literature review of ring chromosome 7 and clinical, cytogenetic and fine molecular mapping of the first postnatal report of a male child with a non‐supernumerary ring chromosome 7, r(7). The patient had dysmorphic features, developmental delay, dermatologic lesions with variable pigmentation, hypogenitalism, lumbar dextroscoliosis, cerebellar and ophthalmological abnormalities, and melanocytic congenital nevi. Cytogenetic analysis of peripheral blood and the nevus sample showed the presence of three different cell lines r(7), monosomy 7, and duplicated r(7) (idic r(7)), while findings on fibroblasts from both light and dark skin showed only mosaicism with r(7) and monosomy 7 cell lines in various proportions. FISH assay of the ring chromosome showed subtelomeric loss in both chromosome arms in all tissues studied. Analysis by genome‐wide single‐nucleotide polymorphism array showed a 0.8 Mb deletion in 7p22.3 (involving eight genes) and a 7.5 Mb deletion in 7q36 (involving 29 genes including some involved in genital and central nervous system development). The combination of results from our karyotypic and array analyses enabled us to establish an accurate genotype‐phenotype relationship. © 2014 Wiley Periodicals, Inc.