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

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). -->

ISSN:	1769-7212
DOI:	10.1016/j.ejmg.2006.09.003
Přístupová URL adresa:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0b218ea4dde4eec5d236b065b7489d2 https://doi.org/10.1016/j.ejmg.2006.09.003
Rights:	CLOSED
Přírůstkové číslo:	edsair.doi.dedup.....f0b218ea4dde4eec5d236b065b7489d2
Autor:	Laurent Pasquier, Claude Bendavid, Isabelle Gicquel, Véronique David, Karine Morcel, Jean Lévêque, Daniel Guerrier, Sylvie Odent, Isabelle Pellerin, Catherine Henry, Josette Lucas, Tanguy Watrin, Christèle Dubourg
Rok vydání:	2007
Předmět:	Pathology medicine.medical_specialty Adolescent Tumor suppressor gene Serous carcinoma Fallopian tube carcinoma media_common.quotation_subject Uterus Biology Heart Septal Defects Atrial Genetics medicine Fallopian Tube Neoplasms Humans Genetics (clinical) media_common Daughter Carcinoma Genetic Variation Syndrome General Medicine Anatomy Middle Aged Cadherins medicine.disease Phenotype medicine.anatomical_structure Chromosome 4 Fallopian tube cancer Female Chromosome Deletion Chromosomes Human Pair 4 Haploinsufficiency
Zdroj:	European Journal of Medical Genetics. 50:66-72
ISSN:	1769-7212
DOI:	10.1016/j.ejmg.2006.09.003
Popis:	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).
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0b218ea4dde4eec5d236b065b7489d2 https://doi.org/10.1016/j.ejmg.2006.09.003 Zobrazit plný text záznamu Full Text from ScienceDirect