Unbalanced translocation in a mother and her son in one of two 5;10 translocation families.
We present two families with different distal long arm 5;10 translocations. In one family the propositus and his mother inherited the same derived chromosome 10 from the maternal grandfather who has a balanced t(5;10)(q35.3;q26.13). The phenotype of both the affected patients is milder and only partially overlaps with that of previous cases of distal 10q deletion. Other previously reported cases of transmitted imbalance are also remarkable for mild phenotype, occurrence of deletions rather than duplications and a strong bias toward maternal as opposed to paternal transmission. In the second family, the propositus inherited a derived chromosome 10 from his mother who carries a balanced (t(5;10)(q35.1;q26.3) translocation; his clinical manifestations are consistent with an emerging phenotype for distal 5q duplications.
Barber
J C
JC
Wessex Regional Genetics Laboratory, Salisbury District Hospital, United Kingdom.
Temple
I K
IK
Campbell
P L
PL
Collinson
M N
MN
Campbell
C M
CM
Renshaw
R M
RM
Dennis
N R
NR
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002648:Child; D002879:Chromosomes, Human, Pair 10; D002895:Chromosomes, Human, Pair 5; D005145:Face / Q000002:abnormalities; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D010641:Phenotype; D014178:Translocation, Genetic