Proximal 15q familial euchromatic variant and PWS/AS critical region duplication in the same patient: A cytogenetic pitfall

Abstract Cytogenetically detectable elongation of the 15q proximal region can be associated with Prader–Willi/Angelman critical region interstitial duplications or with inherited juxtacentromeric euchromatic variants. The first category has been reported in association with developmental delay and a...

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Veröffentlicht in:	European journal of medical genetics 2008-11, Vol.51 (6), p.547-557
Hauptverfasser:	Carelle-Calmels, Nadège, Girard-Lemaire, Françoise, Guérin, Eric, Bieth, Eric, Rudolf, Gabrielle, Biancalana, Valérie, Pecheur, Hélène, Demil, Houria, Schneider, Thierry, de Saint-Martin, Anne, Caron, Olivier, Legrain, Michèle, Gaston, Valérie, Flori, Elisabeth
Format:	Artikel
Sprache:	eng
Schlagworte:	15q juxtacentromeric euchromatic variants Base Sequence Biological and medical sciences Child Chromosome Aberrations Chromosome Banding Chromosomes, Human, Pair 15 Complex syndromes DNA Primers Female Fundamental and applied biological sciences. Psychology General aspects. Genetic counseling Genetics of eukaryotes. Biological and molecular evolution Humans In Situ Hybridization, Fluorescence Male Medical Education Medical genetics Medical sciences Metabolic diseases Obesity Pedigree Polymerase Chain Reaction Prader–Willi/Angelman syndrome critical region (PWACR) duplications Pseudogenes
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