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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
4
|
pubmed:dateCreated |
1976-12-30
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pubmed:abstractText |
A family demonstrating short arm deletion of the X chromosome as a consequence of X-16 balanced translocation in the mother is reported. The two Xp- sisters exhibit clinical signs of gonadal dysgenesis, while the balanced carriers are phenotypically normal. To our knowledge this represents the only example of both the balanced carrier state for an X translocation and its genetic consequence occurring in the offspring, as well as the involvement of X-16 interchange. Literature data of 37 additional cases of verified X translocations are discussed.
|
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
|
pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
0009-9163
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pubmed:author | |
pubmed:issnType |
Print
|
pubmed:volume |
10
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
202-7
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pubmed:dateRevised |
2004-11-17
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pubmed:meshHeading |
pubmed-meshheading:975595-Adolescent,
pubmed-meshheading:975595-Chromosome Aberrations,
pubmed-meshheading:975595-Chromosome Deletion,
pubmed-meshheading:975595-Chromosomes, Human, 16-18,
pubmed-meshheading:975595-Female,
pubmed-meshheading:975595-Humans,
pubmed-meshheading:975595-Pedigree,
pubmed-meshheading:975595-Sex Chromosomes,
pubmed-meshheading:975595-Translocation, Genetic,
pubmed-meshheading:975595-Turner Syndrome
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pubmed:year |
1976
|
pubmed:articleTitle |
X-short arm deletion gonadal dysgenesis in two siblings due to unique translocation (Xp-;16p+).
|
pubmed:publicationType |
Journal Article,
Case Reports
|