Duplication 4p and deletion 4p (Wolf-Hirschhorn syndrome) due to complementary gametes from a 3:1 segregation of a maternal balanced t(4;13)(p16;q11) translocation.
We present clinical and cytogenetic data on a family with a t(4;13)(p16;q11) translocation present in four generations. The balanced translocation resulted in one individual with monosomy 4p and one individual with trisomy 4p, due to 3:1 segregation. The male patient with trisomy 4p was fertile and transmitted the extra chromosome to his daughter.
Genetics Division, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
S S
SS
Takeno
M
M
Corbani
J A D
JA
Andrade
M de A C
Mde A
Smith
D
D
Brunoni
M I
MI
Melaragno
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics*; D020090:Chromosome Segregation / Q000235:genetics; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014178:Translocation, Genetic / Q000235:genetics*; D014314:Trisomy / Q000235:genetics*