|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0000772,
umls-concept:C0008059,
umls-concept:C0025362,
umls-concept:C0039082,
umls-concept:C0040715,
umls-concept:C0599718,
umls-concept:C0599813,
umls-concept:C0599893,
umls-concept:C1515568,
umls-concept:C1522702,
umls-concept:C1882911
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|
pubmed:issue |
1
|
|
pubmed:dateCreated |
1989-5-19
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|
pubmed:abstractText |
A newborn male infant was found to have an unusual pattern of congenital anomalies associated with an apparently balanced de novo reciprocal translocation: 46,XY,t(1;2)(p22;q22). The infant had a previously apparently undescribed multiple congenital anomalies and mental retardation syndrome.
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|
pubmed:language |
eng
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|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Jan
|
|
pubmed:issn |
0148-7299
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
32
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
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pubmed:pagination |
36-41
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:2495721-Abnormalities, Multiple,
pubmed-meshheading:2495721-Chromosome Banding,
pubmed-meshheading:2495721-Chromosomes, Human, Pair 1,
pubmed-meshheading:2495721-Chromosomes, Human, Pair 2,
pubmed-meshheading:2495721-Eye Abnormalities,
pubmed-meshheading:2495721-Humans,
pubmed-meshheading:2495721-Infant, Newborn,
pubmed-meshheading:2495721-Intellectual Disability,
pubmed-meshheading:2495721-Karyotyping,
pubmed-meshheading:2495721-Male,
pubmed-meshheading:2495721-Syndrome,
pubmed-meshheading:2495721-Translocation, Genetic
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|
pubmed:year |
1989
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|
pubmed:articleTitle |
De novo reciprocal 1p;2q translocation in a child with multiple congenital anomalies/mental retardation syndrome.
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|
pubmed:affiliation |
Department of Medical Genetics, Shaughnessy Hospital, Vancouver, Canada.
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|
pubmed:publicationType |
Journal Article,
Case Reports
|
