Molecular analysis of the 18Q- syndrome-and correlation with phenotype

Journal Article · Sat May 01 04:00:00 EDT 1993 · American Journal of Human Genetics; (United States)

OSTI ID:6281403

Kline, A D; White, M E; Wapner, R; Rojas, K; Overhauser, J ^[1]; Kamholz, J; Zackai, E H ^[2]; Biesecker, L G ^[3]; Scott, C I ^[4]

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1. Thomas Jefferson Univ., Philadelphia, PA (United States)
2. Univ. of Pennsylvania School of Medicine (United States)
3. Univ. of Michigan, Ann Arbor (United States)
4. Alfred I. Dupont Institute, Wilmington, DE (United States)

Seven individuals with deletions of the distal long arm of chromosome 18 were evaluated at the clinical, cytogenetic, and molecular levels. The patients had varying degrees of typical clinical findings associated with the 18q-syndrome. Cytogenetic analysis revealed deletions from 18q21.3 or 18q22.2 to qter. Somatic cell hybrids derived from the patients were molecularly characterized using ordered groups of probes isolated from a chromosome 18-specific library. In general, the size of the deletion could be correlated with the severity of the phenotype. Based on the clinical pictures of these seven patients, a preliminary phenotypic map for the clinical features associated with deletions of the distal portion of the long arm has been generated. Furthermore, genes previously localized to 18q21 were mapped relative to the chromosome breakpoints present in these patients. 39 refs., 4 figs., 4 tabs.

• OSTI ID: 6281403
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 52:5; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
550900 -- Pathology
59 BASIC BIOLOGICAL SCIENCES
ANIMAL GROWTH
CHROMOSOMAL ABERRATIONS
CHROMOSOMES
CONGENITAL MALFORMATIONS
CORRELATIONS
DISEASES
GENETIC MAPPING
GROWTH
HUMAN CHROMOSOME 18
HUMAN CHROMOSOMES
INHIBITION
MALFORMATIONS
MAPPING
MENTAL DISORDERS
MUTATIONS
NERVOUS SYSTEM DISEASES
PATHOLOGICAL CHANGES
PHENOTYPE