Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants
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- 作者：Ana Paula dos Santos (5) (7)
Juliana Gabriel Ribeiro Andrade (6)
Cristiane Santos Cruz Piveta (5)
Juliana de Paulo (7)
Gil Guerra-Junior (6) (7)
Maricilda Palandi de Mello (5)
Andréa Trevas Maciel-Guerra (6) (7) - 关键词：Partial gonadal dysgenesis ; Genital ambiguity ; Mosaicism ; Microdeletions ; Chromosome Y
- 刊名：BMC Medical Genetics
- 出版年：2013
- 出版时间：December 2013
- 年：2013
- 卷：14
- 期：1
- 全文大小：482 KB
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28. The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2350/14/115/prepub - 作者单位：Ana Paula dos Santos (5) (7)
Juliana Gabriel Ribeiro Andrade (6)
Cristiane Santos Cruz Piveta (5)
Juliana de Paulo (7)
Gil Guerra-Junior (6) (7)
Maricilda Palandi de Mello (5)
Andréa Trevas Maciel-Guerra (6) (7)
5. Center of Molecular Biology and Genetic Engineering, University of Campinas -UNICAMP, Campinas, SP, Brazil
7. Department of Pediatrics, Faculty of Medical Sciences, University of Campinas -UNICAMP, Campinas, SP, Brazil
6. Interdisciplinary Group to Study of Sex Determination and Differentiation (GIEDDS), Faculty of Medical Sciences, University of Campinas -UNICAMP, Campinas, SP, Brazil - ISSN：1471-2350
文摘
Background Partial and mixed gonadal dysgenesis (PGD and MGD) are characterized by genital ambiguity and the finding of either a streak gonad and a dysgenetic testis or two dysgenetic testes. The karyotype in PGD is 46,XY, whereas a 45,X/46,XY mosaicism or its variants (more than two lineages and/or structural abnormalities of the Y chromosome) is generally found in MGD. Such mosaics are also compatible with female phenotype and Turner syndrome, ovotesticular disorder of sex development, and infertility in men with normal external genitalia. During the last few years, evidences of a linkage between Y microdeletions and 45,X mosaicism have been reported. There are also indications that the instability caused by such deletions might be more significant in germ cells. The aim of this work was to investigate the presence of Y chromosome microdeletions in individuals with PGD and in those with 45,X/46,XY mosaicism or its variants and variable phenotypes. Methods Our sample comprised 13 individuals with PGD and 15 with mosaicism, most of them with a MGD phenotype (n--1). Thirty-six sequence tagged sites (STS) spanning the male specific region (MSY) on the Y chromosome (Yp, centromere and Yq) were analyzed by multiplex PCR and some individual reactions. Results All STS showed positive amplifications in the PGD group. Conversely, in the group with mosaicism, six individuals with MGD had been identified with Yq microdeletions, two of them without structural abnormalities of the Y chromosome by routine cytogenetic analysis. The deleted STSs were located within AZFb and AZFc (Azoospermia Factor) regions, which harbor several genes responsible for spermatogenesis. Conclusions Absence of deletions in individuals with PGD does not confirm the hypothesis that instability of the Y chromosome in the gonads could be one of the causes of such condition. However, deletions identified in the second group indicate that mosaicism may be associated with Y chromosome abnormalities detectable only at the molecular level. If patients with mosaicism and Y microdeletions reared as males decide to undergo in vitro fertilization, Y chromosomes which tend to be unstable during cell division may be transmitted to offspring.