Interstitial deletion in the long arms of chromosome 1: 46,XY,del(1)(pter leads to q22::q25 leads to qter)

A child was brought to us with multiple anomalies. On examination we found an interstitial deletion in the long arms of chromosome 1. We studied genetic and chromosome markers, comparing our clinical and cytogenetic findings with other reported cases of chromosome 1 interstitial deletion.

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Bibliographic Details
Published in:Journal of medical genetics 1980-12, Vol.17 (6), p.483-486
Main Authors: de Pablo, C E, García Sagredo, J M, Ferro, M T, Ferrando, P, San Román, C
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Chromosome Aberrations
Chromosome Banding
Chromosome Deletion
Chromosome Disorders
Chromosomes, Human, 1-3 - ultrastructure
Genetic Markers
Humans
Infant
Male
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Description
Summary:A child was brought to us with multiple anomalies. On examination we found an interstitial deletion in the long arms of chromosome 1. We studied genetic and chromosome markers, comparing our clinical and cytogenetic findings with other reported cases of chromosome 1 interstitial deletion.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.17.6.483