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Journal of Korean Medical Science ; : 112-113, 2003.
Artículo en Inglés | WPRIM | ID: wpr-63343

RESUMEN

We report an unbalanced translocation involving chromosome 2 and 7 due to a balanced reciprocal translocation 2;7 in the father. The female fetus had a partial trisomy of the long arm of chromosome 2 with a partial monosomy of distal 7q. Ultrasound at the first trimester had indicated normal fetal anatomy, including normal intracranial structures. Parental karyotypes showed a paternal balanced translocation: 46,XY,t(2;7)(q37.3;->q34). The unbalanced translocation in the fetus resulted in trisomy for 2q37.3 qter and monosomy for 7q34->qter. Postnatal examination showed that the female abortus had a cleft lip and palate, and mild dysmorphic features. The clinical phenotype was in agreement with previous descriptions and allowed us to propose a fetal phenotype for this chromosomal abnormality.


Asunto(s)
Adulto , Femenino , Humanos , Masculino , Embarazo , Anomalías Múltiples/embriología , Anomalías Múltiples/genética , Aborto Habitual/genética , Aborto Terapéutico , Trastornos de los Cromosomas/embriología , Trastornos de los Cromosomas/genética , Cromosomas Humanos Par 2/ultraestructura , Cromosomas Humanos Par 7/ultraestructura , Enfermedades Fetales/genética , Enfermedades Fetales/patología , Feto/anomalías , Monosomía , Fenotipo , Translocación Genética , Trisomía
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