Reciprocal translocation associated with multiple exostoses in seven members of a three generation family and discovered through an infertile male.
We report a four generations family with multiple exostoses segregating with a reciprocal translocation t(8;19)(q24.11;q13.13) in 8 members of three generations. FISH investigations detected a breakage of the dosage-sensitive EXT1 gene. Although three members of the family died perinatally from unknown causes and one carrier had four spontaneous abortions, the translocation was discovered only when the cytogenetic analysis was requested in an affected male because of oligozoospermia. In fact, it is well known that infertile males may be carriers of reciprocal or Robertsonian translocations with a higher frequency than the general population. This family stresses the importance of requesting the cytogenetic analysis in all cases in which a dominant disease segregates with repeated miscarriages and/or newborn deaths of unknown cause.
Pramparo
Tiziano
T
Biologia Generale e Genetica Medica, University of Pavia, Pavia, Italy.
Gregato
Giuliana
G
De Gregori
Manuela
M
Friso
Alessandra
A
Clementi
Maurizio
M
Ardenghi
Patrizia
P
Rocchi
Mariano
M
Zuffardi
Orsetta
O
Tenconi
Romano
R
D000328:Adult; D000368:Aged; D002871:Chromosome Banding; D002898:Chromosomes, Human, Pair 8; D005097:Exostoses, Multiple Hereditary / Q000235:genetics*; D005260:Female; D006801:Humans; D007246:Infertility; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*; D010375:Pedigree; D014178:Translocation, Genetic; D000099058:Exostosin 1
D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1