Mosaic partial trisomy 17q2.

Mosaic partial trisomy 17q2.

Examination of an infant born after prenatal diagnosis of mosaic partial trisomy 17q2 showed the unique phenotypic features of this chromosomal abnormality, that is, frontal bossing, large mouth, brachyrhizomelia, and hexadactyly. Amniocentesis was performed because of polyhydramnios and ultrasound diagnosis of fetal craniofacial dysmorphology and rhizomelic shortening of the limbs. Chromosomal...

Two Cases of Partial Trisomy 4p and Partial Trisomy 14q

We present clinical and cytogenetic data on 2 cases of partial trisomy 4p and partial trisomy 14q. Both patients had an extra der(14)t(4;14)(p15.31;q12) chromosome due to a 3:1 segregation from a balanced translocation carrier mother. Array analyses indicated that their chromosomal breakpoints were similar, but there was no relationship between the 2 families. Both patients showed prominent gro...

Sonographic Findings in Partial Type of Trisomy 18

Familial partial 14 trisomy.

Four children in the same family have 47, +der (14), t(9;14) (p24;q21). Their mothers are sisters with 46,XX,t(9;14) (p24;q21). Clinical features of the children are similar to those of others reported to have partial 14 trisomy.

Partial 10q trisomy with partial 12q monosomy.

A case of partial trisomy 10q with partial monosomy 12q is reported. The chromosomal abnormalities resulted from a paternal balanced, reciprocal translocation involving chromosomes 10 and 12, which, to the best of our knowledge, has not been previously described.