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PMID: 1150238 Published · ppublish ger English Abstract Journal Article

[45,X/46,SYq dic-Sexchromosome mosaic].

45,X/46,XYq dic-Geschlechtschromosomenmosaik

Humangenetik ·Vol. 27 ·No. 2 ·1975-00-00 ·Pages 81-90

Frey RO, Bühler EM, Bühler UK, Stalder GR

Abstract

This is the report on an obese girl with small stature and sexual infantilism. A 45,X/46,XYq dic mosaic was found in blood and fibroblast cultures. A summary is given of the cases so far reported in the literature. The clinical picture does not differ significantly from that of 45,X/46,XY cases. The relationship of phenotype and structural abnormalities of the Y chromosome is discussed.

MeSH Terms
Adult Blood Cells Cells, Cultured Child Female Fibroblasts Fluorescence Hair Humans Hypogonadism/diagnosis Karyotyping Mitosis Mosaicism Mouth Mucosa Obesity/diagnosis Phenotype Quinacrine Sex Chromatin/analysis Sex Chromosome Aberrations/diagnosis Sex Chromosomes/analysis
Chemicals
Quinacrine
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Frey R O
Bühler E M
Bühler U K
Stalder G R
References (23)
23 references, click to expand
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Article Info
Journal
Humangenetik
Abbr.
Humangenetik
ISSN
0018-7348
Published
1975-00-00
Pages
81-90
Language
ger
Region
Germany
NLM ID
7607154
Subset
IM
External Links
PubMed source
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