Linked Life Data

18080328

Source:http://linkedlifedata.com/resource/pubmed/id/18080328

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2007-12-26
pubmed:abstractText
Complex chromosomal rearrangements with more than two breakpoints are rare. We report on a 5-year-old girl, evaluated because of psychomotor delay, ectrodactyly of right hand and feet, craniofacial dysmorphic features, cleft palate, deafness, and tetralogy of Fallot. A standard karyotype suggested a small intrachromosomal duplication of chromosome 7q. The chromosomal rearrangement was characterized by mBAND, which disclosed a reciprocal interstitial translocation t(7;8)(q21q22;q23q24). FISH analysis and array-CGH analysis showed a paracentric inversion of 7q and a microdeletion of 7q21.13. The parents had normal chromosomes. The deletion found in the present patient confirms that candidate region of ectrodactyly-deafness (OMIM 220600) maps to 7q21 and suggests new candidate genes for that disorder. This patient also had facial features reminiscent of tricho-rhino-phalangeal syndrome and one chromosome breakpoint involved band 8q24, a locus for this disorder. In addition, FOG1 gene maps to 8q23 and has been implicated in a subset of subjects with tretralogy of Fallot. We suggest that the aberration of 8q may have contributed to her facial and cardiac findings.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
1552-4833
pubmed:author
pubmed:copyrightInfo
(c) 2007 Wiley-Liss, Inc.
pubmed:issnType
Electronic
pubmed:day
15
pubmed:volume
146A
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
238-44
pubmed:dateRevised
2008-5-21
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes.
pubmed:affiliation
CSS-Hospital, San Giovanni Gotondo and CSS-Mendel Institute, Rome, Italy. l.bernardini@css-mendel.it
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't