Balanced reciprocal translocation mosaicism: clinical implications. Two new cases.
Two new cases of balanced reciprocal translocation mosaicism (BRTM) are described, one with early miscarriages and a polymalformed child and the second showing an abnormal phenotype resembling the three cases previously reported in literature. The frequency of this aberration in the population referred to in our laboratory is determined and compared with previous publications.
Vargas
M T
MT
Unidad de Genetica, Hospital Universitario Virgen Macarena, Sevilla, Spain. mtvargas@cica.es
Fernández-Novoa
M C
MC
D000015:Abnormalities, Multiple / Q000235:genetics*; D000026:Abortion, Habitual / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D005260:Female; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism; D010641:Phenotype; D011159:Population Surveillance; D014178:Translocation, Genetic / Q000235:genetics*