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PMID: 133078 Published · ppublish English Case Reports Journal Article

21 ring chromosome in a girl with stigmata of Down's and G deletion I syndromes.

Human genetics ·Vol. 33 ·No. 1 ·1976-07-07 ·Pages 47-53

Serra A, Singh-Kahlon DP

Abstract

An 11-year-old girl with severe psychomotor retardation and other congenital anomalies characteristic of Down's and G deletion I syndromes, was confirmed to be a chromosome 21 ring carrier by R- and G-banding techniques. The dynamics of the ring evolution resulting in a population of complex unstable rings, as in our index case, and the effects of the consequent ring mosaicism are briefly discussed.

MeSH Terms
Child Chromosome Aberrations Chromosome Deletion Chromosomes, Human, 21-22 and Y Down Syndrome/enzymology,genetics Female Humans Mosaicism Phenotype Superoxide Dismutase/blood Syndrome
Chemicals
Superoxide Dismutase
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Serra A
Singh-Kahlon D P
References (15)
15 references, click to expand
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00447285
Published
1976-07-07
Pages
47-53
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00447285 View journal details
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