Linked Life Data

10964553

Source:http://linkedlifedata.com/resource/pubmed/id/10964553

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2000-10-12
pubmed:abstractText
Chromosome 4p- syndrome is a multiple malformation syndrome associated with partial deletion of the short arm of chromosome 4 (4p-). It is characterized by dysmorphic features and retarded development. Cleft lip and/or palate are the major clinical manifestations. Cases of tetrasomy 9p are extremely rare; the principal clinical manifestations of this condition are characteristic craniofacial abnormalities, generalized hypotonia and severe mental retardation. We present the first case of a female infant with 4p deletion and tetrasomy 9p mosaicism, exhibiting a left-sided cleft lip, alveolus and soft palate. Karyotype analysis of lymphocytes cultured from the patient revealed that she was mosaic: 86% of the cells were 46, XX, add (4) (p15.32) and 14% were 47, XX, add (4) (p15.32), +idic (9)(q12). The G-banding pattern appeared consistent with either translocation or partial proximal deletion of 4p. In order to make a definitive cytogenetic diagnosis of isodicentric chromosome 9, fluorescence in situ hybridization (FISH) was applied. At 8 months, when the patient weighed 4.3 kg, her cleft lip was repaired. Before and after surgery there were no seizures, and the postoperative course was uneventful.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
D
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1010-5182
pubmed:author
pubmed:copyrightInfo
Copyright 2000 European Association for Cranio-Maxillofacial Surgery.
pubmed:issnType
Print
pubmed:volume
28
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
165-70
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
2000
pubmed:articleTitle
4p- syndrome and 9p tetrasomy mosaicism with cleft lip and palate.
pubmed:affiliation
Maxillofacial Surgery, Graduate School, Tokyo Medical and Dental University, Yushima, Tokyo, Japan.
pubmed:publicationType
Journal Article, Review, Case Reports