Interstitial deletion of the long arm of chromosome 7
- 1 April 1980
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 54 (1) , 19-23
- https://doi.org/10.1007/bf00279044
Abstract
Chromosome studies were carried out in a girl because of psychomotor retardation and difficulty in swallowing. The girl was admitted to hospital for the first time when 25 months old. The most characteristic signs revealed by the physical examination were short distal ulnar phalanges, clitoral hypertrophy, and very thin outer ear cartilages. An interstitial deletion of the long arm of chromosome 7 was observed: 7q22::7q31. Laboratory investigations revealed a remarkably high level of IgG, immunoglobulin, and an elevated value of serum FSH. No evidence of gene loci located at the deleted part of chromosome 7 were found.This publication has 15 references indexed in Scilit:
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