Delineation of an Isodicentric Y Chromosome in a Mosaic 45,X/46,X,idic(Y)(qter-p11.3:: p11.3-qter) Fetus by SRY Sequencing, G-banding, FISH, SKY and Study of Distribution in Different Tissues (original) (raw)

2007, Journal of the Formosan Medical Association

Abstract

Turner syndrome (karyotype: 45,X) affects 1 in 5000 live born females. Features include redundant neck skin (web neck), peripheral lymph edema, short stature, cardiovascular abnormalities, and ovarian dysfunction. 1 Unfortunately, a highly variable phenotypical spectrum is noted in mosaic sex chromosome disorders, including mosaic 45,X. The uncertainty regarding genotype-phenotype relationship in this group of disorders renders our genetic counseling difficult. 2 A structurally altered Y chromosome is occasionally observed in patients with mosaic Turner syndrome. Amongst these structurally altered Y chromosomes, dicentric Y is the most common form. 3 SRY inhibits the DAX1 gene (at Xp21.2), consequently suppresses the antagonizing effect of DAX1 to SF1 (steroidogenic factor 1, at 11q13 and enhances the maleness) and therefore enhances the development of the undifferentiated gonad to testes. 4 Mutations of SRY gene (including loss-offunction mutations and deletion), the ratios of Y-containing cells to 45,X cells, the responsiveness of undifferentiated gonads to androgenic factors and hormones, may all affect the development of

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