Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2001-9-19
pubmed:abstractText
We report on a three-month-old boy with a 46,XY,der(Y)t(Y;7)(p11.32;p15.3) karyotype and growth deficiency, postnatal microcephaly with large fontanels, wide sagittal and metopic sutures, hypertelorism, choanal stenosis, micrognathia, bilateral cryptorchidism, hypospadias, abnormal fingers and toes, and severe developmental delay. FISH studies showed partial trisomy 7p resulting from a de novo unbalanced translocation. The application of molecular probes from the TWIST gene region (7p15.3-p21.1) and probes from the pseudoautosomal region (PAR) demonstrated that the 7p15.3-pter fragment was translocated onto Yp with the breakpoint within approximately 20 kb from the Yp telomere. We discuss the possible role of the TWIST gene in abnormal skull development and suggest that trisomy 7p cases with delayed closure of fontanels can be a result of TWIST gene dosage effect.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0148-7299
pubmed:author
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
103
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
56-62
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed-meshheading:11562935-Abnormalities, Multiple, pubmed-meshheading:11562935-Adolescent, pubmed-meshheading:11562935-Child, pubmed-meshheading:11562935-Chromosomes, Human, Pair 7, pubmed-meshheading:11562935-Fingers, pubmed-meshheading:11562935-Growth Disorders, pubmed-meshheading:11562935-Humans, pubmed-meshheading:11562935-In Situ Hybridization, Fluorescence, pubmed-meshheading:11562935-Infant, pubmed-meshheading:11562935-Karyotyping, pubmed-meshheading:11562935-Male, pubmed-meshheading:11562935-Microcephaly, pubmed-meshheading:11562935-Nuclear Proteins, pubmed-meshheading:11562935-Phenotype, pubmed-meshheading:11562935-Toes, pubmed-meshheading:11562935-Transcription Factors, pubmed-meshheading:11562935-Translocation, Genetic, pubmed-meshheading:11562935-Trisomy, pubmed-meshheading:11562935-Twist Transcription Factor, pubmed-meshheading:11562935-Y Chromosome
pubmed:year
2001
pubmed:articleTitle
Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus.
pubmed:affiliation
Institute of Human Genetics and Medical Biology, University Halle-Wittenberg, Halle/S, Germany. pawels@bcm.tmc.edu
pubmed:publicationType
Journal Article, Review, Case Reports, Research Support, Non-U.S. Gov't