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Vol. 44. Núm. 4.
Páginas 169-174 (enero 2001)
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Vol. 44. Núm. 4.
Páginas 169-174 (enero 2001)
DOI: 10.1016/S0304-5013(01)75637-3
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Estimación del riesgo de aneuploidías para los cromosomas sexuales en un paciente 46,XY/47,XXY candidato a fecundación in vitro con microinyección intracitoplasmática espermática
Estimation of risk of aneuploidies for sexual chromosomes in a patient 46,XY/47,XXY candidate for in vitro fertilization by intracytoplasmic sperm injection
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B. Arana,
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begara@iudexeus.uab.es

Correspondencia: Servei Medicina de la Reproducció.Departament d'Obstetricia i Ginecologia.Institut Universitari Dexeus.P.o Bonanova, 89-91. 08017 Barcelona
, F. Vidalb, I. Gallostraa, J. Blancob, F. Garcíaa, J.M. Vendrella, B. Coroleua, S. Egozcueb, J. Egozcueb, P.N. Barria, A. Veigaa
a Servei de Medicina de la Reproducció.Departament d'Obstetricia i Ginecologia.Institut Universitari Dexeus. Barcelona
b Unitat de Biologia Cel·lular. Facultat de Ciències.Universitat Autònoma de Barcelona
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Resumen

Se presenta un embarazo conseguido tras microinyección intracitoplasmática de espermatozoides del eyaculado de un paciente con síndrome de Klinefelter mosaico. El mosaicismo observado en células germinales premeióticas estaba invertido con respecto al observado en sangre periférica. A partir de los estudios meióticos y de hibridación in situ (FISH) en espermatozoides, se estimó que el riesgo genético del paciente para la transmisión de gonosomopatías a la descendencia era equivalente a la de la población control, aconsejándose un ciclo de fecundación in vitro con microinyección intracitoplasmática espermática y posterior diagnóstico prenatal en caso de gestación

Por desgracia, el embarazo no llegó a término. Los pacientes con síndrome de Klinefelter deben ser estudiados con detalle antes de realizar un ciclo de fecundación in vitro con microinyección intracitoplasmática espermática. En estos pacientes se recomiendan los estudios meióticos y de FISH en espermatozoides eyaculados o testiculares, así como diagnóstico prenatal. El diagnóstico genético preimplantacional puede recomendarse sólo en casos de alto riesgo genético

Palabras clave:
FISH
Embarazo tras ICSI
Síndrome de Klinefelter
Meiosis
Abstract

We report the case of a pregnancy after intracytoplasmic sperm injection of ejaculated spermatozoa in a mosaic Klinefelter patient. The percentage of mosaicism observed in premeiotic germ cells was inverted with respect to that observed in peripheral blood. From meiotic and fluorescent in situ hybridization (FISH) studies, we concluded that the patient's genetic risk of transition of sexual chromosomal abnormalities to ther offspring was similar to that in the control population. Therefore, a cycle of in vitro fertilization by intracytoplasmic sperm injection (IVF-ICSI) and prenatal diagnosis were recommended. Unfortunately, the pregnancy ended in miscarriage. Klinefelter patients should be exhaustively studied before IVF-ICSI treatment. Meiotic studies and FISH in ejaculated or testicular spermatozoa as well as prenatal diagnosis should be carried out in these patients. Preimplantation genetic diagnosis is advisable only in patients at high genetic risk

Keywords:
FISH
ICSI pregnancy
Klinefelter's syndrome
Meiosis
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Copyright © 2001. Sociedad Española de Ginecología y Obstetricia

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