Document Detail

Severe phenotype in a girl with partial tetrasomy 7, karyotype 46,XX,trp(7)(q35q36).
MedLine Citation:
PMID:  19738385     Owner:  NLM     Status:  MEDLINE    
On prenatal ultrasonography, polyhydramnion, internal hydrocephalus, hypoplasia of the corpus callosum, and dysmorphic features were detected in a fetus of a 22-year-old mother. Subsequent karyotyping of amniocytes revealed supernumerary material in distal 7q. The baby was delivered after 38+4 weeks of gestation, and postnatal array CGH analysis showed a triplication of 7q35-->q36, resulting in partial tetrasomy. The triplication was not distinguishable from a duplication by conventional and molecular cytogenetic methods, but was clearly identified by array CGH analysis. The phenotype was rather severe with limited cardiac contractility and subsequent respiratory problems, as well as progressive neurologic deterioration and several dysmorphic features. Triplications in general are rare, and this case is the first report of a microscopically visible triplication in 7q. Duplication patients of the same chromosomal segment also showed a severe phenotype, however, in our opinion there are no common features suggesting a clinically recognizable distal 7q duplication/triplication syndrome.
H Lehnen; R Maiwald; S Neyzen; J Kohlhase; D B??hm; J Ritterbach; C Behrend; G Schwennicke
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2009-09-04
Journal Detail:
Title:  Cytogenetic and genome research     Volume:  125     ISSN:  1424-859X     ISO Abbreviation:  Cytogenet. Genome Res.     Publication Date:  2009  
Date Detail:
Created Date:  2009-09-09     Completed Date:  2009-09-25     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101142708     Medline TA:  Cytogenet Genome Res     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  248-52     Citation Subset:  IM    
Copyright Information:
Copyright 2009 S. Karger AG, Basel.
Municipal Clinics M??nchengladbach, Elisabeth Hospital Rheydt, Department of Gynecology, M??nchengladbach, Germany.
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MeSH Terms
Chromosomes, Human, Pair 7*
Chromosomes, Human, X*
Comparative Genomic Hybridization
Fetus / abnormalities
In Situ Hybridization, Fluorescence
Infant, Newborn
Ultrasonography, Prenatal
Young Adult

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