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PMID: 649157 Published · ppublish English Case Reports Journal Article

Analysis of banding patterns and mosaic configurations in a case of ring chromosome 15.

Human genetics ·Vol. 41 ·No. 3 ·1978-04-24 ·Pages 289-99

Schmid M, Henrichs I, Nestler H, Knörr-Gärtner H, Teller WM, Krone W

Abstract

Cytogenetic studies on lymphocytes from a 14-year-old mentally retarded girl with somatic anomalies suggestive of a chromosomal abnormality revealed a ring chromosome 15. The long arm of the defective chromosome is broken at band q24 or q25. The silver staining technique for nucleolus organizer regions showed that the ring had lost the achromatic stalk and the satellite. The chromosomal mosaicism resulting from the structural instability of the ring chromosome was analyzed and compared with 6 cases reported in the literature. It is proposed that the clinical manifestations in the different patients with ring chromosome 15 result from both the deficiency in the long arm and the mosaic configurations.

MeSH Terms
Adolescent Chromosome Aberrations/diagnosis Chromosome Disorders Chromosomes, Human, 13-15 Dermatoglyphics Female Humans Intellectual Disability/genetics Karyotyping Mosaicism
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Schmid M
Henrichs I
Nestler H
Knörr-Gärtner H
Teller W M
Krone W
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27 references, click to expand
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00284763
Published
1978-04-24
Pages
289-99
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00284763 View journal details
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