2q34-qter duplication and 4q34.2-qter deletion in a patient with developmental delay.

Détails

ID Serval
serval:BIB_55DE5303DB73
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
2q34-qter duplication and 4q34.2-qter deletion in a patient with developmental delay.
Périodique
European Journal of Medical Genetics
Auteur(s)
Rashidi-Nezhad A., Parvaneh N., Farzanfar F., Azimi C., Harewood L., Akrami S.M., Reymond A.
ISSN
1878-0849 (Electronic)
ISSN-L
1769-7212
Statut éditorial
Publié
Date de publication
2012
Volume
55
Numéro
3
Pages
203-210
Langue
anglais
Résumé
The 2q3 duplication and 4q3 deletion syndromes are two conditions with variable phenotypes including Pierre-Robin sequence (PRS), limb anomalies, congenital heart defects (CHD), developmental delays and intellectual disabilities. We describe a patient born to a mother with a balanced t(2; 4) translocation who combines both a 2q34-qter duplication and a 4q34.2-qter deletion through inheritance of the derivative chromosome 4 (der(4)). He showed developmental delay, growth retardation, hearing problems, minor facial and non-facial anomalies, such as bilateral fifth finger shortness and clinodactyly, but no PRS or CHD. The comparison of his features with those of 46 and 65 published cases of 2q3 duplication and 4q3 deletion, respectively, allows us to further restrict the size of the proposed critical intervals for PRS and CHD on chromosome 4.
Mots-clé
Abnormalities, Multiple/genetics, Chromosome Deletion, Chromosome Duplication, Chromosomes, Human, Pair 2/genetics, Chromosomes, Human, Pair 4/genetics, Developmental Disabilities/genetics, Face/abnormalities, Fingers/abnormalities, Hearing Loss, Humans, Infant, Male
Pubmed
Web of science
Création de la notice
20/09/2012 19:16
Dernière modification de la notice
20/08/2019 15:10
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