Journal article
Analysis of clinical variation seen in patients with 18q terminal deletions
American journal of medical genetics, Vol.59(4), pp.476-483
12/04/1995
DOI: 10.1002/ajmg.1320590414
PMID: 8585568
Abstract
Twenty‐six patients with deletions of 18q were analyzed at the clinical and molecular levels in an attempt to delineate regions of chromosome 18 important to the 18q– syndrome phenotype. Molecular cytogenetic analysis was carried out using fluorescence in situ hybridization (FISH), and deletions ranging from 18q21.1–qter to 18q22.3–qter were detected. The parental origin of the deletions was determined by the analysis of inheritance of microsatellite markers. No correlation between size, parental origin, or severity of the resulting phenotype was found. The results suggest that a critical region for the 18q– syndrome lies in the most distal portion of 18q and that it confers susceptibility for the various clinical manifestations of the 18q– syndrome when present in one copy. © 1995 Wiley‐Liss, Inc.
Details
- Title: Subtitle
- Analysis of clinical variation seen in patients with 18q terminal deletions
- Creators
- Gordon StrathdeeElaine H ZackaiRay ShapiroJohn KamholzJoan Overhauser
- Resource Type
- Journal article
- Publication Details
- American journal of medical genetics, Vol.59(4), pp.476-483
- DOI
- 10.1002/ajmg.1320590414
- PMID
- 8585568
- NLM abbreviation
- Am J Med Genet
- ISSN
- 0148-7299
- eISSN
- 1096-8628
- Publisher
- Wiley; New York
- Number of pages
- 8
- Language
- English
- Date published
- 12/04/1995
- Academic Unit
- Neurology; Psychiatry
- Record Identifier
- 9984020997302771
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