Distal trisomy 14q.

Distal trisomy 14q.

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...

A case of partial 14 trisomy 47,XY,(14q-)+ and translocation t(9p+;14q-) in mother and brother.

adrenals. Autoradiography of skin fibroblast culture demonstrated that the cell line with 48 chromosome included a distinctly late-labelled X chromosome and an extra D chromosome labelling as expected for No. 13. The labelling in the 47 chromosome cell line also confirmed the extra D to be No. 13. No euploid cells were found. Chromosome analysis of peripheral blood from each parent was normal.

A child trisomic for the distal part of chromosome 14q.

A child is described with multiple congenital abnormalities including microcephaly, odd facies, Fallot's tetralogy, and absent parathyroids. These were associated with partial trisomy for the distal half of the long arm of chromosome 14, the extra segment being translocated to the short arms of No 10. The main clinical problems were those related to the congenital heart disease and hypocalcaemia.

Familial distal trisomy 8(q24.13----qter).

Trisomy for the distal part of the long arm of chromosome 8(q24.13----qter) is described in three sibs. The anomaly arose as an adjacent 1 meiotic segregation from a balanced reciprocal translocation t(1;8)(q44; q24.13)mat.