Molecular analysis of the 18q- syndrome : and correlation with phenotype

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...

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Bibliographic Details
Published in:American journal of human genetics 1993-05, Vol.52 (5), p.895-906
Main Authors: KLINE, A. D, WHITE, M. E, WAPNER, R, ROJAS, K, BIESECKER, L. G, KAMHOLZ, J, ZACKAI, E. H, MUENKE, M, SCOTT, C. I, OVERHAUSER, J
Format: Article
Language:English
Subjects:
550900 > Pathology
Abnormalities, Multiple - genetics
Adolescent
Adult
ANIMAL GROWTH
Base Sequence
BASIC BIOLOGICAL SCIENCES
Biological and medical sciences
Child
Child, Preschool
CHROMOSOMAL ABERRATIONS
chromosome 18
Chromosome aberrations
Chromosome Aberrations - genetics
Chromosome Banding
Chromosome Deletion
Chromosome Disorders
Chromosome Mapping
CHROMOSOMES
Chromosomes, Human, Pair 18
clinical aspects
CONGENITAL MALFORMATIONS
CORRELATIONS
deletion
DISEASES
Female
Gene Library
GENETIC MAPPING
GROWTH
HUMAN CHROMOSOME 18
HUMAN CHROMOSOMES
Humans
Hybrid Cells
INHIBITION
Karyotyping
Male
MALFORMATIONS
man
MAPPING
Medical genetics
Medical sciences
MENTAL DISORDERS
Molecular Sequence Data
Muscle Hypotonia - genetics
MUTATIONS
NERVOUS SYSTEM DISEASES
PATHOLOGICAL CHANGES 550400 > Genetics
PHENOTYPE
phenotypes
Polymerase Chain Reaction
Sequence Analysis, DNA
Syndrome
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Summary: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.
ISSN:0002-9297
1537-6605