A fourth case of ring chromosome 7

Details

Serval ID
serval:BIB_97AE35E33731
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
A fourth case of ring chromosome 7
Journal
Clinical Genetics
Author(s)
DeLozier  C. D., Theintz  G., Sizonenko  P., Engel  E.
ISSN
0009-9163 (Print)
Publication state
Published
Issued date
08/1982
Volume
22
Number
2
Pages
90-8
Notes
Case Reports
Journal Article --- Old month value: Aug
Abstract
An 8-year-old child with a ring chromosome 7 is presented, the first female and the fourth such individual to be described. The associated anomalies were rather benign: she presented with short stature, minor skeletal alterations, and normal intelligence. The only truly striking feature was the presence of multiple large, pigmented naevi, suggestive of a hamartomatous origin, but unlike those typical of any particular syndrome. Though other ring 7 patients have had naevus flammeus, and one had cafe-au-lait spots, our proband is the first with an anomaly of chromosome 7 to have such extensive lesions. These four cases of ring 7, which show great phenotypic variation, are reviewed, and the clinical presentation of the proband is also compared with that of patients suffering from terminal, interstitial and translocation-derived 7p and 7q deletions. The formation and behavior of ring chromosomes are discussed, as are the cytogenetic factors which may influence their phenotypic expression.
Keywords
Child Chromosome Banding *Chromosome Deletion Chromosomes, Human, 6-12 and X/*ultrastructure Female Genes, Recessive Humans Karyotyping Nevus/etiology Phenotype
Pubmed
Web of science
Create date
25/01/2008 10:31
Last modification date
20/08/2019 14:59
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