[8:11 translocation. A familial study].
Chromosomal studies were carried out in a family, the probandus showed the existence of a reciprocal translocation 8:11. The cytogenetic research on other three members of the family, one of them was carried of the same translocation, and was advised for amniocentesis. The chromosomics researchs of two amniotics fluids showed a normal kariotype in the first amniocentesis but in the second study showed the same reciprocal translocation. Upon our results, we discussed the possible implication of said reciprocal translocation in genetic council as well as in the mental retard and congenitals malformations.
Vargas de los Monteros
M T
MT
Hospital Universitario Virgen de la Macarena.
Fernández-Novoa García
M C
MC
González González
M V
MV
San Martín Díez
M V
MV
Fernández Ortega
J M
JM
D002880:Chromosomes, Human, Pair 11; D002898:Chromosomes, Human, Pair 8; D000013:Congenital Abnormalities / Q000235:genetics; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D014178:Translocation, Genetic
Translocación 8:11. Estudio familiar.