mosaicismo inusual en un caso de diagnóstico prenatal citogenético
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ID: 254929
1998
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Abstract
Se detecta prenatalmente un paciente con una translocación recíproca entre los brazos largos de los cromosomas 13 y 18, que aparentemente era balanceada. El cariotipo de ambos padres en la sangre periférica fue normal y deciden no correr el riesgo de tener un niño afectado. En el análisis de corroboración del diagnóstico prenatal, que se realizó en el tejido fetal, se observó un mosaicismo, al aparecer la misma translocación verificada prenatalmente en el cultivo de piel y un complemento cromosómico normal 46,XX en el cultivo de sangre fetal. Por lo inusual de este mosaicismo se recomienda tener en cuenta casos como éste en las consultas de asesoramiento genético.
A patient with a reciprocal translocation between the long arms of chromosomes 13 and 18, which was apparently balanced, was prenatally detected. The karyotipe of both parents in the peripheral blood was normal and they decided no to run the risk of having an affected child. In the analysis of corroboration of the prenatal diagnosis that was made with fetal tissue, mosaicism was observed on appearing the same prenatally verified translocation in the skin culture and a normal chromosomic complement 46,XX in the fetal blood culture. Due to the unusual character of this mosaicism, it is recommended to have into account cases like this is in the genetic counseling consultations.
A patient with a reciprocal translocation between the long arms of chromosomes 13 and 18, which was apparently balanced, was prenatally detected. The karyotipe of both parents in the peripheral blood was normal and they decided no to run the risk of having an affected child. In the analysis of corroboration of the prenatal diagnosis that was made with fetal tissue, mosaicism was observed on appearing the same prenatally verified translocation in the skin culture and a normal chromosomic complement 46,XX in the fetal blood culture. Due to the unusual character of this mosaicism, it is recommended to have into account cases like this is in the genetic counseling consultations.
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| Authors | ;Luis A. Méndez Rosado;Ignacio Nazábal Cowan;Marta Lavista González;Olga Quiñones Masa;Jorge Quintana Aguilar |
| Journal | studies in the history of gardens and designed landscapes |
| Year | 1998 |
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