NDLI: Cytogenomic and phenotypic analysis in low-level monosomy 7 mosaicism with non-supernumerary ring chromosome 7.

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Cytogenomic and phenotypic analysis in low-level monosomy 7 mosaicism with non-supernumerary ring chromosome 7.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Salas-Labadía, Consuelo Cervantes-Barragán, David E. Cruz-Alcívar, Roberto Daber, Robert D. Conlin, Laura K. Leonard, Laura D. Spinner, Nancy B. Durán-McKinster, Carola Dávila-Ortíz de Montellano, David J. Del Castillo-Ruiz, Victoria Pérez-Vera, Patricia
Description	Country affiliation: Mexico Author Affiliation: Salas-Labadía C ( Laboratorio de Cultivo de Tejidos, Departamento de Genética Humana, Instituto Nacional de Pediatría, México, DF, Mexico.)
Abstract	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.
File Format	HTM / HTML
ISSN	15524825
Issue Number	7
Volume Number	164A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2014-07-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Chromosome Disorders Diagnosis Genetics Cytogenetic Analysis Mosaicism Phenotype Chromosome Banding Chromosomes, Human, Pair 7 Comparative Genomic Hybridization Genetic Association Studies Humans In Situ Hybridization, Fluorescence Infant Male Ring Chromosomes Case Reports Journal Article Research Support, Non-u.s. Gov't Review
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

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