Article: article d'un périodique ou d'un magazine.
2q34-qter duplication and 4q34.2-qter deletion in a patient with developmental delay.
European Journal of Medical Genetics
Date de publication
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.
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
Web of science
Création de la notice
Dernière modification de la notice