Prenatal Diagnosis of 45,X/46,XX Mosaicism with Presence of SRY Gene. A Case Report

The most common karyotype of the Turner syndrome is 45,X, although it may occur as mosaic 45,X/46,XX. In the Provincial Medical Genetics Center, a 42-year-old pregnant woman underwent an amniocentesis which led to the detection of mosaic Turner Syndrome (45,X/46,XX). A male was diagnosed through ult...

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Main Authors: Pedro Alí Díaz-Véliz Jiménez, María Antonia Ocaña Gil, Leydi María Sosa Águila, Belkis Vidal Hernández
Format: Article
Language:Spanish
Published: Centro Provincial de Información de Ciencias Médicas. Cienfuegos 2013-10-01
Series:Medisur
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Online Access:http://medisur.sld.cu/index.php/medisur/article/view/2259
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author Pedro Alí Díaz-Véliz Jiménez
María Antonia Ocaña Gil
Leydi María Sosa Águila
Belkis Vidal Hernández
author_facet Pedro Alí Díaz-Véliz Jiménez
María Antonia Ocaña Gil
Leydi María Sosa Águila
Belkis Vidal Hernández
author_sort Pedro Alí Díaz-Véliz Jiménez
collection DOAJ
description The most common karyotype of the Turner syndrome is 45,X, although it may occur as mosaic 45,X/46,XX. In the Provincial Medical Genetics Center, a 42-year-old pregnant woman underwent an amniocentesis which led to the detection of mosaic Turner Syndrome (45,X/46,XX). A male was diagnosed through ultrasound and a sample of amniotic fluid was sent to the National Medical Genetics Center to confirm it. A study of the SRY gene was completed and the result was positive. The patient decided to terminate the pregnancy. The pathology report showed a fetal corpse of 25, 3 weeks of gestation, with penis and morphologically normal scrotal sacs, presenting alterations by cysts and hypoplasia of the prostate and seminal vesicles as well as testicular absence. In the literature, cases of XX males are considered uncommon while those combining a mosaic 45, X/46, XX with a SRY gene are less addressed; and therein lies the importance of this case. This article presents the results of a prenatal diagnosis of this rare chromosomal aberration.
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id doaj-art-81dd99f26fb8419fb763acb37d37e30c
institution Kabale University
issn 1727-897X
language Spanish
publishDate 2013-10-01
publisher Centro Provincial de Información de Ciencias Médicas. Cienfuegos
record_format Article
series Medisur
spelling doaj-art-81dd99f26fb8419fb763acb37d37e30c2025-01-30T21:28:46ZspaCentro Provincial de Información de Ciencias Médicas. CienfuegosMedisur1727-897X2013-10-011155465511029Prenatal Diagnosis of 45,X/46,XX Mosaicism with Presence of SRY Gene. A Case ReportPedro Alí Díaz-Véliz Jiménez0María Antonia Ocaña Gil1Leydi María Sosa Águila2Belkis Vidal Hernández3Centro Provincial de Genética Médica. CienfuegosCentro Provincial de Genética Médica. CienfuegosCentro Provincial de Genética Médica. CienfuegosCentro Provincial de Genética Médica. CienfuegosThe most common karyotype of the Turner syndrome is 45,X, although it may occur as mosaic 45,X/46,XX. In the Provincial Medical Genetics Center, a 42-year-old pregnant woman underwent an amniocentesis which led to the detection of mosaic Turner Syndrome (45,X/46,XX). A male was diagnosed through ultrasound and a sample of amniotic fluid was sent to the National Medical Genetics Center to confirm it. A study of the SRY gene was completed and the result was positive. The patient decided to terminate the pregnancy. The pathology report showed a fetal corpse of 25, 3 weeks of gestation, with penis and morphologically normal scrotal sacs, presenting alterations by cysts and hypoplasia of the prostate and seminal vesicles as well as testicular absence. In the literature, cases of XX males are considered uncommon while those combining a mosaic 45, X/46, XX with a SRY gene are less addressed; and therein lies the importance of this case. This article presents the results of a prenatal diagnosis of this rare chromosomal aberration.http://medisur.sld.cu/index.php/medisur/article/view/2259mosaicismogenes srydiagnóstico prenatalaberraciones cromosómicasinformes de casos
spellingShingle Pedro Alí Díaz-Véliz Jiménez
María Antonia Ocaña Gil
Leydi María Sosa Águila
Belkis Vidal Hernández
Prenatal Diagnosis of 45,X/46,XX Mosaicism with Presence of SRY Gene. A Case Report
Medisur
mosaicismo
genes sry
diagnóstico prenatal
aberraciones cromosómicas
informes de casos
title Prenatal Diagnosis of 45,X/46,XX Mosaicism with Presence of SRY Gene. A Case Report
title_full Prenatal Diagnosis of 45,X/46,XX Mosaicism with Presence of SRY Gene. A Case Report
title_fullStr Prenatal Diagnosis of 45,X/46,XX Mosaicism with Presence of SRY Gene. A Case Report
title_full_unstemmed Prenatal Diagnosis of 45,X/46,XX Mosaicism with Presence of SRY Gene. A Case Report
title_short Prenatal Diagnosis of 45,X/46,XX Mosaicism with Presence of SRY Gene. A Case Report
title_sort prenatal diagnosis of 45 x 46 xx mosaicism with presence of sry gene a case report
topic mosaicismo
genes sry
diagnóstico prenatal
aberraciones cromosómicas
informes de casos
url http://medisur.sld.cu/index.php/medisur/article/view/2259
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AT mariaantoniaocanagil prenataldiagnosisof45x46xxmosaicismwithpresenceofsrygeneacasereport
AT leydimariasosaaguila prenataldiagnosisof45x46xxmosaicismwithpresenceofsrygeneacasereport
AT belkisvidalhernandez prenataldiagnosisof45x46xxmosaicismwithpresenceofsrygeneacasereport