Phenotypic variability of a 4q34 → qter inherited deletion: MRKH syndrome in the daughter, cardiac defect and Fallopian tube cancer in the mother

European Journal of Medical Genetics

Volumn 50, Issue 1, 2007, Pages 66-72

  Bendavid, Claude ^a,b   Pasquier, Laurent ^c   Watrin, Tanguy ^a   Morcel, Karine ^a,c   Lucas, Josette ^b   Gicquel, Isabelle ^a   Dubourg, Christèle ^a,b   Henry, Catherine ^b   David, Véronique ^a,b   Odent, Sylvie ^c   Levêque, Jean ^c   Pellerin, Isabelle ^a   Guerrier, Daniel ^a  

^a UNIVERSITÉ DE RENNES 1   (France)

^b PONTCHAILLOU UNIVERSITY HOSPITAL   (France)

^c SERVICE DE RHUMATOLOGIE   (France)

Author keywords

4q syndrome; 4q34 terminal deletion; Atrial septal defect; Fallopian tube serous carcinoma; FAT; MRKH syndrome

Indexed keywords

ADULT; APLASIA; ARTICLE; CASE REPORT; CHROMOSOME 4Q; CHROMOSOME DELETION 4; CLEFT PALATE; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; DAUGHTER; DISEASE ASSOCIATION; EXTRACHROMOSOMAL INHERITANCE; FACE DYSMORPHIA; FAT GENE; FEMALE; GROWTH RETARDATION; GYNECOLOGIC CANCER; HAPLOTYPE; HUMAN; INTERSTITIAL CHROMOSOME DELETION; LIMB MALFORMATION; MENTAL DEFICIENCY; MOTHER; PHENOTYPIC VARIATION; ROKITANSKY SYNDROME; TUMOR SUPPRESSOR GENE; UTERINE TUBE CARCINOMA; UTERUS MALFORMATION; VAGINA APLASIA;

ADOLESCENT; CADHERINS; CARCINOMA; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 4; FALLOPIAN TUBE NEOPLASMS; FEMALE; HEART SEPTAL DEFECTS, ATRIAL; HUMANS; MIDDLE AGED; PHENOTYPE; SYNDROME; VARIATION (GENETICS);

EID: 33846325481     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2006.09.003     Document Type: Article

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