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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
|
| pubmed:dateCreated |
1985-6-28
|
| pubmed:abstractText |
Authors report two patients from different families who present similar abnormalities caused by an "almost complete" trisomy of the short arm of chromosome 5 [case No. 1: 46, XY, der (20), t (5; 20) (p11;p13), mat; case No.2: 46, XY, dup (5p)]. Several family members of case No. 1 were balanced translocation carriers. Case No. 2 is probably due to de novo duplication. Clinical findings in our cases and those cited in the literature allow identification of certain main features characteristic of "almost complete" trisomy 5p: hypotonia, weak cry, mongoloid slant of eyes, epicanthus, depressed nasal bridge, auricular anomalies, bilateral cryptorchidism and, less frequently, macrocephaly, micrognathia and club feet.
|
| pubmed:language |
spa
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Mar
|
| pubmed:issn |
0302-4342
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:day |
31
|
| pubmed:volume |
22
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
288-92
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:4003955-Abnormalities, Multiple,
pubmed-meshheading:4003955-Chromosome Aberrations,
pubmed-meshheading:4003955-Chromosome Disorders,
pubmed-meshheading:4003955-Chromosomes, Human, 4-5,
pubmed-meshheading:4003955-Humans,
pubmed-meshheading:4003955-Infant,
pubmed-meshheading:4003955-Infant, Newborn,
pubmed-meshheading:4003955-Karyotyping,
pubmed-meshheading:4003955-Male,
pubmed-meshheading:4003955-Pedigree,
pubmed-meshheading:4003955-Syndrome,
pubmed-meshheading:4003955-Trisomy
|
| pubmed:year |
1985
|
| pubmed:articleTitle |
[Trisomy 5p: a report of 2 cases].
|
| pubmed:publicationType |
Journal Article,
English Abstract,
Case Reports
|