|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0004083,
umls-concept:C0008667,
umls-concept:C0040715,
umls-concept:C0205108,
umls-concept:C0205415,
umls-concept:C0337493,
umls-concept:C0449721,
umls-concept:C0596790,
umls-concept:C0599718,
umls-concept:C0599813,
umls-concept:C0599893,
umls-concept:C1442161,
umls-concept:C1517983,
umls-concept:C1522702
|
|
pubmed:issue |
11
|
|
pubmed:dateCreated |
2008-11-27
|
|
pubmed:abstractText |
Interstitial deletions of the long arm of chromosome 4 are rare. The deletions may occur at the proximal or the distal portions of the chromosome and different breakpoints may be involved. We report an interstitial deletion of 4q: 46XY der 4 (q28;q35) in a six-year-old boy with dysmorphic features associated with moderate mental retardation. Parental chromosomal analysis showed a balanced paternal translocation.
|
|
pubmed:language |
eng
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|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Nov
|
|
pubmed:issn |
0037-5675
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
49
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
e336-9
|
|
pubmed:dateRevised |
2011-11-17
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|
pubmed:meshHeading |
pubmed-meshheading:19037546-Abnormalities, Multiple,
pubmed-meshheading:19037546-Body Height,
pubmed-meshheading:19037546-Child,
pubmed-meshheading:19037546-Chromosome Banding,
pubmed-meshheading:19037546-Chromosome Deletion,
pubmed-meshheading:19037546-Chromosome Disorders,
pubmed-meshheading:19037546-Chromosomes, Human, Pair 4,
pubmed-meshheading:19037546-Fathers,
pubmed-meshheading:19037546-Female,
pubmed-meshheading:19037546-Humans,
pubmed-meshheading:19037546-In Situ Hybridization, Fluorescence,
pubmed-meshheading:19037546-Intellectual Disability,
pubmed-meshheading:19037546-Karyotyping,
pubmed-meshheading:19037546-Male,
pubmed-meshheading:19037546-Translocation, Genetic
|
|
pubmed:year |
2008
|
|
pubmed:articleTitle |
Interstitial deletion of the distal long arm of chromosome 4, del (4)(q33-q35), in association with paternal balanced translocation.
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|
pubmed:affiliation |
Department of Pathology, Faculty of Medicine, Hospital Universiti Kebangsaan Malaysia, Jalan Yaacob Latif, Cheras, Kuala Lumpur, Malaysia. ayureena@hotmail.com
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|
pubmed:publicationType |
Journal Article,
Case Reports
|
