Familial fragile secondary constriction on chromosome 2 (2q11) with unusual features and psychomotor retardation

A child with fragile secondary constriction 2q11 associated with unusual clinical features and psychomotor retardation is described. The pathogenetic significance of this fragile site still remains unclear, and heterogeneity of clinical manifestations is not well understood.

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Bibliographic Details
Published in:Indian journal of pediatrics 1990-03, Vol.57 (2), p.257-260
Main Authors: KRISHNA MURTHY, D. S, TEEBI, A. S, SUNDARESHAN, T. S, AL-AWADI, S. A
Format: Article
Language:English
Subjects:
Biological and medical sciences
Cells, Cultured
Chromosome Fragile Sites
Chromosome Fragility
Chromosome fragility (bloom syndrome, ataxia telangiectasia, fanconi anemia, x-linked mental retardation...)
Chromosomes, Human, Pair 2
Female
Humans
Infant
Intellectual Disability - genetics
Medical genetics
Medical sciences
Psychomotor Disorders - diagnosis
Psychomotor Disorders - genetics
Tropical medicine
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Description
Summary:A child with fragile secondary constriction 2q11 associated with unusual clinical features and psychomotor retardation is described. The pathogenetic significance of this fragile site still remains unclear, and heterogeneity of clinical manifestations is not well understood.
ISSN:0019-5456
0973-7693
DOI:10.1007/BF02722098