Espinosa ÁDC, Guerrero JD, Fernández CO

Language: Spanish
References: 5
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ABSTRACT

The chromosome marker is a small chromosomal indeterminate fragment that we can find at the time of performing a karyotype. It was received a sample of amniotic liquid of a patient remitted for advanced maternal age. The amniocentesis was performed after the 17^th week of gestation. The sample obtained was cultured and it was processed according to the standardized techniques used in the laboratory. As a result of the prenatal citogenetic diagnostic it was evidenced a marker of unknown origin: 47, XY, + mar. The chromosomal study of the mother evidenced a pericentric investment of the chromosome 9, whereas the chromosomes of the father were normal, then it was considered again. Both parents were informed about the results and previous genetic advices and they decided to interrupt the pregnancy. The anatomopathologic study confirmed that it was a masculine fetus with macroglossia and low implantation of the ears.

REFERENCES

1. Isabel Castro Volio, Kay Sander Mangel, Manuel Vargas Prado, Luis Sánchez Cháves y Gerardo Escalante López Diagnóstico prenatal citogenético mediante amniocentesis durante los trimestres II y III de gestación en Costa Rica. Rev. biol. trop v.49 n.3-4 San José dic. 2001

2. Dorado, M., Rodríguez, A.,Hebles, M. , Sanchez, P., Migueles, B., González, M., Aguilera, L., Cruz, N., Sánchez, F. Cariotipo 47, XY, + mar e implicaciones en la esterilidad. Revista ASEBIR Vol.13 Núm. 2

3. Hernando Davalillo Cristina. Caracterización de anomalías cromosómicas en diagnóstico prenatal y postnatal mediante técnicas de citogenética molecular. Tesis Doctoral 2005.

4. Silvia Castillo Taucher, Ana María Fuentes S1, Alejandro Paulos M1, Andrea Pardo V2. Múltiple FISH y múltiple BAND: técnicas de citogenética molecular en cinco casos. Rev. méd. Chile v.130 n.5 Santiago mayo 2002

5. Rojas BI. Principios del Asesoramiento Genético. Conferencias CNGM, Ciudad de la Habana, 2001.