Detailed clinical description of four patients with 1.3 and 2.1 Mb chromosome imbalances derived from a familial t(12;17)(q24.33;q25.3).

Details

Serval ID
serval:BIB_27E8336CF38E
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Title
Detailed clinical description of four patients with 1.3 and 2.1 Mb chromosome imbalances derived from a familial t(12;17)(q24.33;q25.3).
Journal
American Journal of Medical Genetics. Part A
Author(s)
Schoumans J., Sanner G., Nordenskjöld M., Anderlid B.M.
ISSN
1552-4825 (Print)
ISSN-L
1552-4825
Publication state
Published
Issued date
2005
Volume
134
Number
3
Pages
254-258
Language
english
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov'tPublication Status: ppublish
Abstract
We describe a family carrying a submicroscopic reciprocal translocation involving 12qter and 17qter detected by subtelomeric FISH analysis. Four family members inherited unbalanced variants-two cases inherited the derivative chromosome 12 and the other two the derivative chromosome 17. The two individuals with the derivative chromosome 17 showed a distinct phenotype with mild mental retardation in combination with multiple minor malformations, while the phenotype in the cases with the derivative chromosome 12 was milder and only partly concordant. Detailed FISH analysis using 19 BAC clones covering the distal part of chromosome 12q and 17q estimated the imbalances to 2.1 and 1.3 Mb, respectively. The clinical and cytogenetic findings of the two different genotypes are reported and discussed. This family illustrates that small chromosome imbalances can be detected in individuals with mild phenotype and normal, or near-normal, cognitive functions.
Keywords
Adult, Chromosome Aberrations, Chromosomes, Human, Pair 12/genetics, Chromosomes, Human, Pair 17/genetics, Family Health, Female, Humans, In Situ Hybridization, Fluorescence, Karyotyping, Male, Middle Aged, Pedigree, Translocation, Genetic
Pubmed
Web of science
Create date
17/09/2011 9:47
Last modification date
20/08/2019 13:07
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