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rdf:type |
|
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lifeskim:mentions |
umls-concept:C0040715,
umls-concept:C0080141,
umls-concept:C0205415,
umls-concept:C0525037,
umls-concept:C0599718,
umls-concept:C0599813,
umls-concept:C0599893,
umls-concept:C0678226,
umls-concept:C1522702,
umls-concept:C1549863,
umls-concept:C1858460,
umls-concept:C1956097,
umls-concept:C2718310,
umls-concept:C2931557,
umls-concept:C2931571
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|
pubmed:issue |
2
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|
pubmed:dateCreated |
2004-8-19
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|
pubmed:abstractText |
We present clinical and cytogenetic data on a family with a t(4;13)(p16;q11) translocation present in four generations. The balanced translocation resulted in one individual with monosomy 4p and one individual with trisomy 4p, due to 3:1 segregation. The male patient with trisomy 4p was fertile and transmitted the extra chromosome to his daughter.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
1552-4825
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pubmed:author |
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pubmed:copyrightInfo |
Copyright 2004 Wiley-Liss, Inc.
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pubmed:issnType |
Print
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pubmed:day |
30
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pubmed:volume |
129A
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
180-3
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:15316961-Abnormalities, Multiple,
pubmed-meshheading:15316961-Adult,
pubmed-meshheading:15316961-Child, Preschool,
pubmed-meshheading:15316961-Chromosome Banding,
pubmed-meshheading:15316961-Chromosome Deletion,
pubmed-meshheading:15316961-Chromosome Disorders,
pubmed-meshheading:15316961-Chromosome Segregation,
pubmed-meshheading:15316961-Chromosomes, Human, Pair 4,
pubmed-meshheading:15316961-Female,
pubmed-meshheading:15316961-Humans,
pubmed-meshheading:15316961-Intellectual Disability,
pubmed-meshheading:15316961-Karyotyping,
pubmed-meshheading:15316961-Male,
pubmed-meshheading:15316961-Pedigree,
pubmed-meshheading:15316961-Syndrome,
pubmed-meshheading:15316961-Translocation, Genetic,
pubmed-meshheading:15316961-Trisomy
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pubmed:year |
2004
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pubmed:articleTitle |
Duplication 4p and deletion 4p (Wolf-Hirschhorn syndrome) due to complementary gametes from a 3:1 segregation of a maternal balanced t(4;13)(p16;q11) translocation.
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pubmed:affiliation |
Genetics Division, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|
