A familial reciprocal translocation t(1;15) in three generations identified in a regular trisomy 21 patient.
The concurrence of a reciprocal translocation and an aneuploidy represent a rare coincidence and an interchromosome effect between these two events has been suggested. We report the case of a family with a t(1;15) in three generations which was identified through the evaluation ofa patient with classical trisomy 21 or Down syndrome. The cytogenetic analysis with GTG banding showed that the proband had a regular trisomy 21 and a balanced translocation t(1;15). FISH and microsatellite analysis were carried out in the family in order to discard an interchromosomal effect. The implications for genetic assessment are discussed.
Hospital Infantil de México Federico Gómez, Departamento de Genética.
C
C
García-Delgado
E
E
Bahena-Martínez
A
A
Aparicio-Onofre
R
R
Guevara-Yañez
A
A
Cervantes-Peredo
O C
OC
Azotla-Vilchis
J
J
Estrada-Mena
A
A
Luna-Angulo
J
J
Villa-Morales
V F
VF
Moran-Barroso
D000782:Aneuploidy; D002675:Child, Preschool; D002871:Chromosome Banding; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D004314:Down Syndrome / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D018895:Microsatellite Repeats / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D014178:Translocation, Genetic / Q000235:genetics*