Document Detail


Transmission of the marker X syndrome trait by unaffected males: conclusions from studies of large families.
MedLine Citation:
PMID:  6593289     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
It is well established that apparently unaffected males can be transmitters of the marker X syndrome trait. Cytogenetic and clinical investigations of these male transmitters are only rarely reported for most of these male transmitters are dead by the time the syndrome is diagnosed in their families. We report on cytogenetic and clinical investigations of two unaffected male carriers of the disorder from two large families. Pedigree analysis of these families revealed six other cases of possible male transmission of the marker X syndrome trait. Mental impairment was not reported from the siblings of these unaffected male carriers and could not be observed in their daughters. The mode of transmission of the disorder cannot be fully explained by X-linked inheritance. The phenomenon of unaffected males transmitting the disorder could be due to an autosomal suppressor systeme. Our findings indicate that male transmission may be important for the frequency of the disorder.
Authors:
U Froster-Iskenius; A Schulze; E Schwinger
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human genetics     Volume:  67     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  1984  
Date Detail:
Created Date:  1984-12-07     Completed Date:  1984-12-07     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  GERMANY, WEST    
Other Details:
Languages:  eng     Pagination:  419-27     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Aged
Child
Child, Preschool
Female
Fragile X Syndrome / genetics*
Genetic Markers
Heterozygote*
Humans
Male
Middle Aged
Pedigree
Phenotype
Sex Chromosome Aberrations / genetics*
X Chromosome
Chemical
Reg. No./Substance:
0/Genetic Markers

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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