Segregation of three reciprocal translocations in the same family: t(3;4), t(5;10), and t(15;21).
A male infant with static antenatal encephalopathy and epilepsy was found to have a duplication of 5p12----5pter and deficiency of 10p13----10pter. Each of his parents was a carrier of a balanced reciprocal translocation. A third translocation was found in the maternal grandfather. The pedigree of each translocation and the segregation of parental reciprocal translocations are discussed.
Telvi
L
L
Service d'Histologie-Embryologie-Cytogénétique et Anatomie Pathologique, Hôpital Saint-Vincent de Paul, Paris, France.
Folhen
M
M
Raoul
O
O
Feingold
J
J
Ponsot
G
G
Pompidou
A
A
Rethoré
M O
MO
Lejeune
J
J
D000596:Amino Acids / Q000032:analysis; D001927:Brain Diseases / Q000196:embryology / Q000235:genetics*; D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10; D002895:Chromosomes, Human, Pair 5; D004827:Epilepsy / Q000235:genetics*; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D005810:Multigene Family / Q000235:genetics; D010375:Pedigree; D014178:Translocation, Genetic / Q000235:genetics*
D000596:Amino Acids