A detailed investigation of two cases exhibiting characteristics of the 6p deletion syndrome
| Autor: | Rosemarie Davidson, Richard J. Stephens, Angela F. Davies, Iman Abusaad, Mark G. Olavesen, Nicole Van Regemorter, Jiannis Ragoussis, Frances Flinter, Daniele Delneste, E. Vamos |
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| Rok vydání: | 1996 |
| Předmět: |
Male
Yeast artificial chromosome medicine.medical_specialty Adolescent Biology Intellectual Disability Genetics medicine Humans Abnormalities Multiple Chromosomes Artificial Yeast In Situ Hybridization Fluorescence Genetics (clinical) Contig Breakpoint Genetic Diseases Inborn Infant Newborn Cytogenetics Chromosome Mapping Chromosome Karyotype Syndrome Hypotonia Chromosome Banding Karyotyping Cosmid Chromosomes Human Pair 6 Female Chromosome Deletion medicine.symptom |
| Zdroj: | Human Genetics. 98:454-459 |
| ISSN: | 1432-1203 0340-6717 |
| DOI: | 10.1007/s004390050239 |
| Popis: | Deletions of the short arm of chromosome 6 are relatively rare, only 16 cases having been described in the literature so far. Here we present a detailed investigation by fluorescence in situ hybridisation of two further cases with different but overlapping interstitial deletions involving 6p22, 6p23 and 6p24. The main features involved are craniofacial malformations, heart and kidney defects, mental retardation/developmental delay, hypotonia and hydrocephalus. By using 36 yeast artificial chromosome and cosmid clones from a contig covering 6p22.3-6p25 and other probes with defined cytogenetic locations within 6p21-6p22 we have precisely localised the breakpoints involved in each of the cases, estimated the sizes of the deleted regions and defined the region that is hemizygously deleted in both cases. |
| Databáze: | OpenAIRE |
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