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

European Journal of Medical Genetics

Volumn 51, Issue 6, 2008, Pages 547-557

  Carelle Calmels, Nadège ^a   Girard Lemaire, Françoise ^a   Guérin, Eric ^a   Bieth, Eric ^b   Rudolf, Gabrielle ^a   Biancalana, Valérie ^c   Pecheur, Hélène ^d   Demil, Houria ^d   Schneider, Thierry ^d   de Saint Martin, Anne ^a   Caron, Olivier ^c   Legrain, Michèle ^a   Gaston, Valérie ^b   Flori, Elisabeth ^a  

^a UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^b TOULOUSE UNIVERSITY HOSPITAL   (France)

^c UNIVERSITÉ DE STRASBOURG   (France)

^d Centre Hospitalier Sainte Catherine   (France)

Author keywords

15q juxtacentromeric euchromatic variants; Prader Willi Angelman syndrome critical region (PWACR) duplications; Pseudogenes

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 15Q; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL DISORDER; ELECTROENCEPHALOGRAM; EPILEPSY; GENETIC VARIABILITY; HAPPY PUPPET SYNDROME; HUMAN; MALE; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE; PHENOTYPE; PRADER WILLI SYNDROME; PRESCHOOL CHILD; PSEUDOGENE;

BASE SEQUENCE; CHILD; CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 15; DNA PRIMERS; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; PEDIGREE; POLYMERASE CHAIN REACTION;

EID: 56649103771     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2008.07.003     Document Type: Article

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