Translocation t(X;11)(q22;q25) in a Woman with Premature Ovarian Failure

Autor:	S T Santhiya, Balachandran Saranya, D Kavitha Devi, M Jayashankar, R S Chandra
Rok vydání:	2013
Předmět:	Adult Male Embryology medicine.medical_specialty Endocrinology Diabetes and Metabolism media_common.quotation_subject Chromosomal translocation Primary Ovarian Insufficiency Biology Abortion Translocation Genetic Internal medicine medicine Humans In Situ Hybridization Fluorescence Menstrual cycle media_common Chromosomes Human X Autosome medicine.diagnostic_test Chromosomes Human Pair 11 Karyotype medicine.disease Chromosome Banding Premature ovarian failure Phenotype Endocrinology Karyotyping Gestation Female Developmental Biology Fluorescence in situ hybridization
Zdroj:	Sexual Development. 7:216-221
ISSN:	1661-5433 1661-5425
Popis:	Genetic, autoimmune, environmental, iatrogenic, and idiopathic factors are known to cause premature ovarian failure (POF). This report describes an X;11 translocation, t(X;11)(q22;q25), in a woman diagnosed with POF. The FSH level was found to be elevated. Menstrual cycle was regular initially, and she had a spontaneous abortion at the 5th month of gestation at 16 years of age. Her mother was karyotypically normal while her father was not investigated. Male carriers of X;autosome translocations are mostly infertile, and hence the translocation is presumed to be of de novo origin. Fluorescence in situ hybridization using whole chromosome paint probes confirmed the rearrangement.
Databáze:	OpenAIRE
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