Document Detail


Familial pericentric inversion of chromosome 18: intrafamilial variability of the recombinant dup(18q).
MedLine Citation:
PMID:  20420035     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A pericentric inversion of chromosome 18 [inv(18)(p11.32q22)] and its recombinants has been studied in a three-generation family. A mother/son couple, carrying the rec dup(18q), showed dysmorphisms and short stature but only the son had mild mental retardation and speech delay. Karyotype, FISH analysis with subtelomeric probes and a 0.8 Mb array-CGH investigations were used to analyze this recombinant, demonstrating no genomic differences between the two relatives. This is the first observation of familial transmission of a rec dup(18q), showing that this recombinant is associated with a mild phenotype with variable clinical picture.
Authors:
P Prontera; B Buldrini; V Aiello; D Rogaia; A Mencarelli; R Gruppioni; A Bonfatti; N Beltrami; E Donti; A Sensi
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Genetic counseling (Geneva, Switzerland)     Volume:  21     ISSN:  1015-8146     ISO Abbreviation:  Genet. Couns.     Publication Date:  2010  
Date Detail:
Created Date:  2010-04-27     Completed Date:  2010-05-14     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9015261     Medline TA:  Genet Couns     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  91-7     Citation Subset:  IM    
Affiliation:
Medical Genetics Unit, University of Perugia, Perugia, Italy. pprontera@hotmail.com
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Child, Preschool
Chromosome Inversion*
Chromosomes, Human, Pair 18 / genetics*
Comparative Genomic Hybridization
Dwarfism / genetics
Facial Bones / abnormalities
Family Health*
Female
Gene Duplication*
Humans
Male
Mental Retardation / genetics
Oligonucleotide Array Sequence Analysis
Pedigree
Recombination, Genetic*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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