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.
García-Delgado
C
C
Hospital Infantil de México Federico Gómez, Departamento de Genética.
Bahena-Martínez
E
E
Aparicio-Onofre
A
A
Guevara-Yañez
R
R
Cervantes-Peredo
A
A
Azotla-Vilchis
O C
OC
Estrada-Mena
J
J
Luna-Angulo
A
A
Villa-Morales
J
J
Moran-Barroso
V F
VF
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*