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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
4
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pubmed:dateCreated |
1992-3-26
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pubmed:abstractText |
Carriers of the standard translocation t(11;22) (q23.3;q11.2) produce only one type of unbalanced offspring, a tertiary trisomy resulting into the karyotype 47,XX or XY, +der(22)t(11;22)(q23.3;q11.2), usually derived from the mother. The exception is one single patient 47,XY,t(11;22)(q23.3;q11.2), +der(22)t(11;22) (q23.3;q11.2)pat. We report a second case with the same karyotype, also of paternal origin. Thus, the rare unbalanced offspring of a carrier father (only 5 cases known) may receive a supernumerary der(22), as a consequence of tertiary trisomy, but also as a consequence of nondisjunction at meiosis II of a balanced spermatocyte.
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pubmed:commentsCorrections | |
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
0340-6717
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
88
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
482-3
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pubmed:dateRevised |
2004-11-17
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pubmed:meshHeading |
pubmed-meshheading:1740326-Chromosome Banding,
pubmed-meshheading:1740326-Chromosomes, Human, Pair 11,
pubmed-meshheading:1740326-Chromosomes, Human, Pair 22,
pubmed-meshheading:1740326-Heterozygote Detection,
pubmed-meshheading:1740326-Humans,
pubmed-meshheading:1740326-Karyotyping,
pubmed-meshheading:1740326-Lymphocytes,
pubmed-meshheading:1740326-Male,
pubmed-meshheading:1740326-Meiosis,
pubmed-meshheading:1740326-Nondisjunction, Genetic,
pubmed-meshheading:1740326-Spermatocytes,
pubmed-meshheading:1740326-Translocation, Genetic
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pubmed:year |
1992
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pubmed:articleTitle |
The unbalanced offspring of the male carriers of the 11q;22q translocation: nondisjunction at meiosis II in a balanced spermatocyte.
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pubmed:affiliation |
Laboratorio di Citogenetica, Universitá di Pisa, Italy.
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pubmed:publicationType |
Journal Article,
Case Reports
|