Translocation Y/5 resulting in Cri du Chat syndrome

Abstract

A case of 45, X, del(5)(p14/45, X, t(Y;5)(q11;p14) mosaicism is described. The patient displays the clinical features of the Cri du Chat syndrome, together with gross malformation of the distal left arm. The presence of male sex development is consistent with the location of factor(s) controlling the male sex determination in the paracentromeric area of the Y chromosome.

Characterization of a de novo unbalanced Y;autosome translocation in a 45,X mentally retarded male and literature review

“…However, if the autosome is a nonacrocentric chromosome and there is a euchromatic autosomal deletion, mental retardation and congenital anomalies are common. The reported autosomal deletion syndromes associated with 45,X and a Y;autosome include 4p deletion syndrome (25), cri-du-chat syndrome (8,(14)(15)(16), Jacobsen syndrome (17), 18p deletion syndrome (18,(22)(23), 9p deletion syndrome (34,38), 1p deletion syndrome (20,37), 16p deletion syndrome (36), and 6p deletion syndrome (19).…”

The identification of Y chromosome translocations following Distamycin A treatment

“…References for translocations to chromosome: Number 1 - Narahara et al (1978); Number 5 -Dutrillaux 8 Gueguen (1975); Vignetti et al (1977); Lucas & Dewhurst (1972) clude: (1) its simplicity and speedthe only extra step is the addition of the drug to the culture; and, ( 2 ) its use obviates the necessity for fluorescent microscopy. The utility of DA treatment has already been demonstrated by Schmid (1979) in a familial Y/22 translocation.…”

45, X Constitution in a H‐Y antigen positive boy with partial monosomy 5p

“…Missing Turner stigmata and the full expression of Cri-du-chat syndrome are also reported in the patients of Vignetti et al (1977) and Tolksdorf et al (1980). Missing Turner stigmata and the full expression of Cri-du-chat syndrome are also reported in the patients of Vignetti et al (1977) and Tolksdorf et al (1980).…”

“…A further case (Vignetti et al 1977) should be mentioned, where mosaicism was present in a phenotypically male patient with 45,X and 5p-constitution. In this case, however, the male phenotype was explained through the translocation of Ychromosomal material (centromeric region) to the deleted 5p chromosome in about 50 % of the analyzed cells.…”