A Very Large Metacentric Chromosome in a Woman with Symptoms of Turner’s Syndrome

Abstract

A sex chromatin positive woman has stunted growth, primary amenor-rhoea, cubitus valgus, Madelung’s deformity and mental deficiency. A modal chromosome number of 46 was found in cultures from peripheral blood, skin and Fascia lata, but an abnormal very large metacentric chromosome and only 15 chromosomes in the X-6–12 group were observed in karyotypes from cells of all cultures. Large and characteristic bipartite bodies were often present in buccal and vaginal smears, and the size of the polymorphonuclear drumsticks was increased. Autoradiographically the abnormal chromosome was the only “hot” chromosome. The patient was Xg^a negative although her father was Xg^a positive. We conclude that the unpaired large chromosome in our patient is an abnormal X chromosome with a partial deletion and a translocation of a piece of an autosome or sex chromosome onto its short arm.

Cytogenetic and Clinical Study on 100 Cases of Primary Amenorrhoea

“…Earlier when the human X chromosome could only be identified by means of autoradiography as the latestlabelling C chromosome, several cases were described with an unbalanced translocation between this late-labelling X and another chromosome. In all these cases the patients had severe developmental anomalies which were ascribed either to loss of genetic material in connection with the translocation (Wie Lie et al 1964, Mukerjee and Burdette 1966, Neuhauser and Back 1967, Engel et al 1971), or duplication of genetic material (German 1967, Cohen et al 1972). Thelen et al (1971) described a patient with translocation in which the normal and abnormal X chromosome were randomly late replicating.…”

Unusual sex chromosome inheritance in mammals

“…3 (Mukherjee & Burdette 1966), a chromosome no. 5 (Mann, Valdmanis, Capps & Puite 1965)5 a C group chromosome (Neuhauser & Back 1967) and with a part of an unknown chromosome (Wie Lie, Coenegracht & Stalder 1964;Thorburn, Miller & Dovey 1967;German 1967). The Y chromosome has fused with a chromosome no.…”

An X;9 translocation, primary amenorrhea, and hypothalamic dysfunction

“…Presumably this is nothing more than coincidence as no mechanism for early male death suggests itself. al, 1964;Mann et al, 1965;Mann and Higgins, 1974;Thorburn et al, 1970;Sarto et al, 1973;Dutrillaux et al, 1974;van Dyke et al, 1977;Phelan et al, 1977;Opitz et al, 1978;van der Hagen and Molne, 1978;Noel, 1979;Juberg et al, 19811 and our own patient. Studies for the late-replicating X chromosome were performed on 14 patients and, with the exception of the patient of Wie Lie et a1 [ 19641, the X chromosome not involved in the translocation (Xn) was late-replicating.…”

“…This seems to be the first description of hypogonadotrophism in X;autosome translocation. Gonadotrophin hormone values were described in only nine of the patients in Table I11 [Wie Lie et al, 1964;Mann et al, 1965;Dutrillaux et al, 1974;van Dyke et al, 1977;Phelan et al, 1977;Forabosco et al, 1979;Carpenter et al, 1980;Juberg et al, 19811. Although the biochemical methods differed from study to study, all but one woman W i e Lie et al, 19641 had elevated gonadotrophin levels.…”