Analysis of clinical variation seen in patients with 18q terminal deletions

Journal Article · Mon Dec 04 04:00:00 EST 1995 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320590414· OSTI ID:443764

Strathdee, G; Overhauser, J; Zackai, E H ^[1]

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1. Univ. of Pennsylvania School of Medicine, Philadelphia, PA (United States); and others

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.l-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. 28 refs., 3 figs., 1 tab.

• Sponsoring Organization: USDOE
• OSTI ID: 443764
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 4 Vol. 59; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BANDING TECHNIQUES
BIOLOGICAL MARKERS
CHROMOSOMAL ABERRATIONS
DETECTION
DNA HYBRIDIZATION
ETIOLOGY
FLUORESCENCE
GENE REGULATION
GENES
GENETIC MAPPING
GENETICS
HEREDITARY DISEASES
HUMAN CHROMOSOME 18
KARYOTYPE
PATIENTS
PHENOTYPE
SIZE
SOMATIC CELLS