title: Phenotypic variability of a 4q34-->qter inherited deletion: MRKH syndrome in the daughter, cardiac defect and Fallopian tube cancer in the mother.
abstract: Terminal deletions of the long arm of chromosome 4 are associated with a recognizable phenotype consisting of dysmorphic facial features, cleft palate, upper and lower limb malformations, cardiac defects and growth and mental retardation. Here we report on two female patients, a mother and her daughter, carrying the same 4q34-->qter deletion but presenting with a different phenotype. The mother's presentation is consistent with previous findings in patients with terminal deletions of the long arm of chromosome 4. However, she presented at the age of 54years with bilateral serous carcinoma of the Fallopian tubes, a rare gynaecologic cancer that might be attributed to the haploinsufficiency of the tumor suppressor gene FAT. The daughter presented isolated congenital aplasia of the uterus and vagina, the prime feature of the MRKH syndrome. This has not been described before in association with a 46,XX,del(4)(q34qter).
authors.affiliation: CNRS UMR 6061, Génétique et Développement, Université de Rennes 1, IFR140 GFAS, Faculté de Médecine, 2, avenue du Profeseur Leon Bernard, Rennes 35043, France.
authors.forename: Claude
authors.initials: C
authors.lastname: Bendavid
authors.forename: Laurent
authors.initials: L
authors.lastname: Pasquier
authors.forename: Tanguy
authors.initials: T
authors.lastname: Watrin
authors.forename: Karine
authors.initials: K
authors.lastname: Morcel
authors.forename: Josette
authors.initials: J
authors.lastname: Lucas
authors.forename: Isabelle
authors.initials: I
authors.lastname: Gicquel
authors.forename: Christèle
authors.initials: C
authors.lastname: Dubourg
authors.forename: Catherine
authors.initials: C
authors.lastname: Henry
authors.forename: Véronique
authors.initials: V
authors.lastname: David
authors.forename: Sylvie
authors.initials: S
authors.lastname: Odent
authors.forename: Jean
authors.initials: J
authors.lastname: Levêque
authors.forename: Isabelle
authors.initials: I
authors.lastname: Pellerin
authors.forename: Daniel
authors.initials: D
authors.lastname: Guerrier
mesh_terms: D000293:Adolescent; D015820:Cadherins / Q000235:genetics; D002277:Carcinoma / Q000235:genetics; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D005185:Fallopian Tube Neoplasms / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D006344:Heart Septal Defects, Atrial / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D010641:Phenotype; D013577:Syndrome
chemical_list: D015820:Cadherins; C502403:FAT1 protein, human