Pubertal development in partial 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...

Distal trisomy 14q.

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.

Reproductive possibilities for balanced translocation (14) carriers in families with partial trisomy of proximal 14q.

Two cases of 14q proximal partial trisomy in sisters from the same family are reported. Clinical features included craniofacial dysmorphism, skin depigmentation, slight anomalies of the limbs, muscular hypertonia, and physical and mental retardation. The third sister had an abnormal phenotype, different from that of her sibs, and proved to be a carrier of a balanced translocation (2;14)(q36;q21...

Sonographic Findings in Partial Type of Trisomy 18