An Unusual Chromosome Abnormality

BALANCED (2q‐; 14q+) TRANSLOCATION

“…2 chromosome translocated to a different D chromosome in each case. The one case of 2/14 (Reisman and Kasahara, 1968) belonged clinically to the 'unbalanced' chromosome group, in contrast to the present patient who was considered on clinical and chromosomal grounds to have a balanced translocation.…”

Autosomal translocation in a mentally retarded male child with 46,XY,t(2q-;13q+) complement. Case report and review.

“…If similarity of congenital defects and presence of a 2:D translocation in most reported cases is not coincidental then material lost from chromosome No. 2 should be considered more important than that lost from the D chromosome, since the abnormal D chromosomes involved in the cases of Reisman and Kasahara (1968), Wurster et al (1969), and this report are different. Translocation of a part of the long arm of chromosome No.…”

“…13 is involved. The abnormal chromosome described by Reisman and Kasahara (1968) was identified as a No. 14, and that of Wurster et al (1969) as a No.…”

Myotonic dystrophy, syringomyelia, and 2/13 translocation in the same family.

“…2 and a D group chromosome have been reported (Lisco and Lisco, 1967;Wurster et al, 1969;Davidson et al, 1970). In the reports of Reisman and Kasahara (1968) and Genest et al (1971) congenital anomalies were associated with the chromosome rearrangements in a way which suggests that the latter were unbalanced. Ricci et al (1968) described a malformed child with partial monosomy D and partial trisomy 2, whose 52 I II III FIG.…”