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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
4
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pubmed:dateCreated |
1993-4-22
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pubmed:abstractText |
The 11q;22q translocations, whatever the breakpoints may be, are of particular interest because of their propensity to 3:1 segregation of the chromosomes at meiosis I. Until now, no unbalanced karyotype resulting from 2:2 adjacent segregation was published among offspring of 11q;22q translocation carriers. The authors report the case of an unbalanced karyotype due to adjacent 1 segregation of a maternal translocation (11;22)(q23.3;q13.2). The proband's karyotype was 46,XX,-22,+der(22)(11;22)(q23.3;q13.2)mat. This finding demonstrates that adjacent 1 segregation is possible in t(11;22) with breakpoints at 11q23 and 22q13, and can lead to birth of viable infants.
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pubmed:commentsCorrections | |
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
|
pubmed:status |
MEDLINE
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pubmed:issn |
0003-3995
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pubmed:author | |
pubmed:issnType |
Print
|
pubmed:volume |
35
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
|
pubmed:pagination |
231-3
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pubmed:dateRevised |
2004-11-17
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pubmed:meshHeading |
pubmed-meshheading:1296521-Abnormalities, Multiple,
pubmed-meshheading:1296521-Bone and Bones,
pubmed-meshheading:1296521-Chromosomes, Human, Pair 11,
pubmed-meshheading:1296521-Chromosomes, Human, Pair 22,
pubmed-meshheading:1296521-Cutis Laxa,
pubmed-meshheading:1296521-Face,
pubmed-meshheading:1296521-Female,
pubmed-meshheading:1296521-Humans,
pubmed-meshheading:1296521-Infant,
pubmed-meshheading:1296521-Karyotyping,
pubmed-meshheading:1296521-Translocation, Genetic
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pubmed:year |
1992
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pubmed:articleTitle |
Unbalanced karyotype due to adjacent 1 segregation of t(11;22)(q23.3;q13.2).
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pubmed:affiliation |
Unité de Cytogénétique, Laboratoire de Biologie du Développement et de la Reproduction, Hôpital Robert-Debré, Paris, France.
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pubmed:publicationType |
Journal Article,
Case Reports
|