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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
6
|
pubmed:dateCreated |
1985-1-22
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pubmed:abstractText |
The cytogenetic analysis of an infant with multiple congenital anomalies revealed a small deletion of the long arm of one No. 11 chromosome: 46XX del 11 (q23-q25). The main clinical manifestations included: trigonocephaly, flat broad nasal bridge, micrognathia, carp mouth, hypertelorism, low set ears, severe congenital heart disease, anomalies of limbs and external genitalia. In comparison to the previously reported cases of 11q-, the patient presented here had congenital anomalies not described before, including severe affected urogenital system, hypoplasia of the adrenal, accessory spleens and mild hydrocephaly.
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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 |
Dec
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pubmed:issn |
0009-9163
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
26
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
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pubmed:pagination |
569-73
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pubmed:dateRevised |
2004-11-17
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pubmed:meshHeading |
pubmed-meshheading:6499268-Abnormalities, Multiple,
pubmed-meshheading:6499268-Autopsy,
pubmed-meshheading:6499268-Chromosome Aberrations,
pubmed-meshheading:6499268-Chromosome Banding,
pubmed-meshheading:6499268-Chromosome Disorders,
pubmed-meshheading:6499268-Chromosomes, Human, 6-12 and X,
pubmed-meshheading:6499268-Female,
pubmed-meshheading:6499268-Humans,
pubmed-meshheading:6499268-Infant, Newborn,
pubmed-meshheading:6499268-Karyotyping
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pubmed:year |
1984
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pubmed:articleTitle |
New anomalies found in the 11q-syndrome.
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pubmed:publicationType |
Journal Article,
Case Reports
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