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) inherited from their phenotypically normal mother.

Multiple cases of trisomy 9p/distal monosomy 18p in a family due to inherited translocation t (9:18).

A case of trisomy 9p/monosomy 18p in four members of a family is described. The mechanism of meiotic segregation is discussed in the sibs' mothers who are carriers of a balanced translocation t(9:18) (p 11.2; p 11.

Centromeric instability of chromosomes 1, 9 and 16 with variable immune deficiency. Support of a new syndrome.

A four-month-old girl with facial dysmorphism, moderate mental retardation, immune deficiency (decreased IgG and IgA and absence of IgM), centromeric instability of chromosomes 1, 9, 16 and very rarely of chromosome 2, and disposition to formation of multibranched chromosomal figures, is described. The case is the fifth described with such chromosomal and immune abnormalities, which prove the existence of a new syndrome. The authors suggest an autosomal recessive inheritance.