Document Detail


Cytogenetic studies in women with primary amenorrhea.
MedLine Citation:
PMID:  2255934     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Cytogenetic investigations were carried out on 117 women with primary amenorrhea who had been referred to our Genetics Laboratory by clinicians throughout Malaysia, after exclusion of other causes of the disorder. Thirty-six cases (31%) showed numerical or structural abnormalities of the sex chromosomes. These can be broadly classified into 4 main types, namely, presence of a Y chromosome (14%), X-chromosome aneuploidies (8%), structural anomalies of the X-chromosome (7%) and lastly, presence of a marker chromosome (2%). Mosaics constituted 17% of the abnormalities observed, always in association with a 45,X cell line. There was no observable correlation between the phenotype of the patients and their respective abnormal karyotypes. The aetiological role of sex chromosomal abnormalities in these amenorrheic women is discussed.
Authors:
S K Ten; Y M Chin; P J Noor; K Hassan
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Singapore medical journal     Volume:  31     ISSN:  0037-5675     ISO Abbreviation:  Singapore Med J     Publication Date:  1990 Aug 
Date Detail:
Created Date:  1991-01-24     Completed Date:  1991-01-24     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0404516     Medline TA:  Singapore Med J     Country:  SINGAPORE    
Other Details:
Languages:  eng     Pagination:  355-9     Citation Subset:  IM    
Affiliation:
Genetics Laboratory, Institute for Medical Research, Kuala Lumpur, Malaysia.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Amenorrhea / complications,  genetics*
Female
Humans
Karyotyping
Sex Chromosome Aberrations / diagnosis*

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