Turner's Syndrome With Secondary Amenorrhoea and Sex Chromosome Mosaicism

Abstract

A female patient is described aged 28 years, height 145 cm, with infantile genitalia, infantile uterus and atrophic ovaries and in whom menstruation had occurred over a period of five years. Chromosome studies from bone marrow, blood, skin (arm and abdominal wall) and both ovaries revealed sex chromosome mosaicism and a structurally abnormal X chromosome. Three cell lines were observed. The prevalent cell line which was present in cultures from all tissues had 45 chromosomes and an XO karyotype; cultures from all tissues except the abdominal skin contained cells with 46 chromosomes, with an X/deleted X karyotype (the latter in the form of a large acrocentric chromosome); lastly a small dot-like (ring?) chromosome was present as the 46th chromosome in some cells derived from the 1960; Sele 8c Trolle 1960; Lindsten 1963). Cytological studies on five of these atypical cases (Lindsten 1963) revealed a variety of chromosomal conditions, ranging from an apparently normal XX female karyotype, through various mosaics XO/XX, XO/X ring X to an XO karyotype.The present communication describes a patient with Turner's syndrome, in

Inheritance of quantitative expression of erythrocyte glucose-6-phosphate dehydrogenase activity in the Negro?a twin study

“…Precedent perhaps exists for nonrandom X-inactivation. In cases where abnormal X-chromosomes have been studied using tritiated thymidine labeling techniques, the abnormal X-chromosome has been shown to be the late labeling (and sex chromatin forming) chromosome (Giannelli, 1963;Muldal et aL, 1963;Grumbach et aL, 1963;Miller et al, 1963;Atkins and Santesson, 1964;London et aL, 1964;Rowley et aL, 1964). This evidence supports the concept that a specific X-chromosome may be preferentially inactivated in a cell in contrast to purely random X-inactivation, although the data can also be explained by cell selection, with loss of the cells in which the abnormal X-chromosome is functional.…”

A 46,XX,t(Cp+;Cq-) translocation in a girl with multiple congenital anomalies and in her phenotypically normal father 46,XY,t(Cq+;Cq-).

“…It has been established that structurally abnormal X chromosomes are the late replicating chromosomes in the complement (Muldal et al, 1963;London et al, 1964). Tritiated thymidine was added to another culture of the proposita's peripheral leuco- cytes.…”

Inactivation of whole chromosomes in mammals and coccids: some comparisons

“…In only one case (London et al 1964) was a size difference in s.c. looked for and not found; radioautography was not attempted in this case. With this in view, data on sex chromatin and other aspects were taken from 21 case reports in the literature and these will be evaluated here.…”