Difficulties of genetic counselling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15) (q11;q13) and at risk for Prader-Willi and Angelman syndromes

European Journal of Human Genetics

Volumn 12, Issue 3, 2004, Pages 181-186

  Flori, Elisabeth ^a   Biancalana, Valérie ^b,c   Girard Lemaire, Françoise ^a   Favre, Romain ^d   Flori, Jean ^d   Doray, Bérénice ^a   Mandel, Jean Louis ^b,c  

^a UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^b UNIVERSITÉ DE STRASBOURG   (France)

^c INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^d SIHCUS CMCO Centre Medico Chirurgical et Obstetrical   (France)

Author keywords

Angelman syndrome; Prader Willi syndrome; Translocation

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 14Q; CHROMOSOME 15Q; CHROMOSOME ANALYSIS; CHROMOSOME SEGREGATION; CHROMOSOME TRANSLOCATION 14; CHROMOSOME TRANSLOCATION 15; CONSANGUINITY; DISEASE ASSOCIATION; FEMALE; GENE DELETION; GENE FUNCTION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC COUNSELING; GENOME IMPRINTING; HAPPY PUPPET SYNDROME; HUMAN; HUMAN CELL; INHERITANCE; MALE; NEWBORN; PATHOGENESIS; PRADER WILLI SYNDROME; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RECURRENCE RISK; RELIABILITY; RISK ASSESSMENT; UNIPARENTAL DISOMY; CHROMOSOME 14; CHROMOSOME 15; CHROMOSOME DELETION; GENE TRANSLOCATION; GENETICS; KARYOTYPING; PEDIGREE; PREGNANCY;

ANGELMAN SYNDROME; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 14; CHROMOSOMES, HUMAN, PAIR 15; CONSANGUINITY; FEMALE; GENETIC COUNSELING; HUMANS; KARYOTYPING; MALE; PEDIGREE; PRADER-WILLI SYNDROME; PREGNANCY; PRENATAL DIAGNOSIS; TRANSLOCATION, GENETIC;

EID: 7044262949     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201134     Document Type: Article

References (24)

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