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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3
|
| pubmed:dateCreated |
1979-11-29
|
| pubmed:abstractText |
A partial trisomy for the distal segment of the long arm of chromosome 7 (bands q32 replaced by qter) was observed in a severely retarded child with somatic and CNS anomalies. The phenotypically normal father and paternal grandmother had a balanced reciprocal translocation between the long arm of a chromosome 2 and the long arm of a chromosome 7: 46,XX-XY,t(2;7) (q37;q32). The clinical features of the child at birth and at the ages of 5 months and 2 years are compared with those previously reported in cases of partial trisomy 7q.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jul
|
| pubmed:issn |
0340-6717
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:day |
18
|
| pubmed:volume |
49
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
283-9
|
| pubmed:dateRevised |
2011-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:478537-Chromosomes, Human, 1-3,
pubmed-meshheading:478537-Chromosomes, Human, 6-12 and X,
pubmed-meshheading:478537-Dermatoglyphics,
pubmed-meshheading:478537-Follow-Up Studies,
pubmed-meshheading:478537-Humans,
pubmed-meshheading:478537-Infant, Newborn,
pubmed-meshheading:478537-Intellectual Disability,
pubmed-meshheading:478537-Male,
pubmed-meshheading:478537-Phenotype,
pubmed-meshheading:478537-Translocation, Genetic,
pubmed-meshheading:478537-Trisomy
|
| pubmed:year |
1979
|
| pubmed:articleTitle |
Partial trisomy for the long arm of chromosome 7 due to familial balanced translocation.
|
| pubmed:publicationType |
Journal Article,
Case Reports
|