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).

Détails

ID Serval
serval:BIB_27E8336CF38E
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
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).
Périodique
American Journal of Medical Genetics. Part A
Auteur(s)
Schoumans J., Sanner G., Nordenskjöld M., Anderlid B.M.
ISSN
1552-4825 (Print)
ISSN-L
1552-4825
Statut éditorial
Publié
Date de publication
2005
Volume
134
Numéro
3
Pages
254-258
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov'tPublication Status: ppublish
Résumé
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.
Mots-clé
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
Création de la notice
17/09/2011 10:47
Dernière modification de la notice
20/08/2019 14:07
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