Ch. Wouters et al., Partial trisomy 4q and monosomy 9p resulting from a familial translocationt(4;9)(q27;p24) in a child with choanal atresia, ANN GENET, 42(3), 1999, pp. 160-165
A male infant with a deletion of 9p and concomitant duplication of 4q: 46,X
Y, der(9)t(4;9)(q27;p24), is described. Parental chromosome analysis showed
a balanced maternal translocation. To our knowledge, the above cytogenetic
and clinical abnormalities have not been described previously. A phenotype
comparison is presented with previously reported cases concerning a deleti
on of 9p and a duplication of 4q.