|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
3
|
|
pubmed:dateCreated |
1977-4-28
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|
pubmed:abstractText |
The case of a 4-month-old male infant with retarded psychomotor development and multiple anomalies is presented. Cytogenetic studies on peripheral blood and skin cultures revealed a normal male complement with a supernumerary small metacentric chromosome. According to its size and its banding patterns, the metacentric chromosome was postulated to be an isochromosome for the short arm of number 18. A deficiency of serum IgA was observed in this patient.
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|
pubmed:language |
eng
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|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
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|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Mar
|
|
pubmed:issn |
0009-9163
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
11
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
184-8
|
|
pubmed:dateRevised |
2004-11-17
|
|
pubmed:meshHeading |
pubmed-meshheading:837568-Abnormalities, Multiple,
pubmed-meshheading:837568-Chromosome Aberrations,
pubmed-meshheading:837568-Chromosomes, Human, 16-18,
pubmed-meshheading:837568-Dermatoglyphics,
pubmed-meshheading:837568-Dysgammaglobulinemia,
pubmed-meshheading:837568-Humans,
pubmed-meshheading:837568-Immunoglobulin A,
pubmed-meshheading:837568-Immunologic Deficiency Syndromes,
pubmed-meshheading:837568-Infant,
pubmed-meshheading:837568-Karyotyping,
pubmed-meshheading:837568-Male,
pubmed-meshheading:837568-Psychomotor Disorders
|
|
pubmed:year |
1977
|
|
pubmed:articleTitle |
A case report of a presumptive +i(18p) associated with serum IgA deficiency.
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|
pubmed:publicationType |
Journal Article,
Case Reports
|
