Prenatal Confirmation of the Translocation between Chromosome 15 and Y-Chromosome by Fluorescence in situ Hybridization.

Fukada, Yukihito; Yasumizu, Takehiko; Amemiya, Atsuhito; Kohno, Keiko; Takizawa, Motoi; Hoshi, Kazuhiko

doi:10.1620/tjem.187.285

Cited by 8 publications

(8 citation statements)

References 4 publications

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“…To our knowledge, this study constitutes (1) the first reported case of a der(15)t(Y;15)(q12;p13) rearrangement in a dizygotic twin pregnancy and (2) the fourth report of the t(Y;15) inherited from maternal origin to date. In contrast with previously reported t(Y;15) translocations, which were mostly of paternal origin [789], (3) we determined the precise breakpoints on both chromosomes and provided more comprehensive genetic information about der(15)t(Y;15) translocation to the parents in the prenatal stage.…”

Section: Discussionmentioning

confidence: 91%

Prenatal diagnosis of the maternal derivative chromosome der(15)t(Y;15)(q12;p13) in a dizygotic twin pregnancy

Chen

Yen

Cheng

et al. 2016

Tzu Chi Medical Journal

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Sex chromosome translocations are unique and must be considered separately from translocations between autosomes. Here, we describe the first prenatal case of one twin fetus with an unbalanced translocation between chromosome Y and chromosome 15, presenting a 46,XY,der(15)t(Y;15) karyotype. The other twin had a normal 46,XY karyotype. Cytogenetic analysis of the parental chromosomes revealed that the father had a normal 46,XY karyotype, whereas the mother exhibited a 46,XX,der(15) t(Y;15) karyotype. Thus, the proband inherited this translocation from the mother. Fluorescence in situ hybridization analyses demonstrated that the breakpoint on chromosome Y involved a heterochromatin region (Yq12), while that on chromosome 15 involved a p-arm region (15p13). At 37 gestational weeks, healthy twins were delivered vaginally. We conclude that accurate identification of der(15) chromosomal content can facilitate not only prenatal diagnosis of a chromosomal aberration in one twin, but also prediction of the fetal phenotype.

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Section: Discussionmentioning

confidence: 91%

Prenatal diagnosis of the maternal derivative chromosome der(15)t(Y;15)(q12;p13) in a dizygotic twin pregnancy

Chen

Yen

Cheng

et al. 2016

Tzu Chi Medical Journal

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“…It was reported that one azoospermia male patient had been performed cytogenetic analysis, the karyotype showed 46, XY,t(Y;1)(cen-q11; cen-p11),(Y;15)(q12;p11), and further it was found his mother carried 46,XX,t(Y;15)(q12;p11) [10]. Recurrent spontaneous abortion was also reported in a male partner carried a der(15)t(Y;15) (q12;p12) [5]. In the present report, couple A had twice abortions, while the male carrier of couple B is asthenozoospermia.…”

Section: Discussionmentioning

confidence: 97%

“…These carriers of der(15)t(Y;15)(q12; p11) translocations usually have normal phenotype with unaffected fertility, therefore usually used to called variants [4]. However, some reports found that der(15)t(Y;15)(q12; p11) carriers could have abnormal phenotype like infertility, repeated spontaneous abortion, stillbirths, liveborn children with defects [5,6]. These researches showed genetic counseling and early prenatal prevention were very important when these patients hoped for obtaining normal children.…”

Section: Introductionmentioning

confidence: 99%

A normal birth following preimplantation genetic diagnosis by FISH determination in the carriers of der(15)t(Y;15)(Yq12;15p11) translocations: two case reports

Chen

Lian

et al. 2007

J Assist Reprod Genet

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“…Thus, carriers of der(15)t(Y;15)(q12; p11) translocations usually have normal phenotype with unaffected fertility and were usually called variants[4] until it was shown that such carriers could have infertility, repeated spontaneous abortion, stillbirths, or liveborn children with defects. [56]…”

Section: Introductionmentioning

confidence: 99%

46,XX, der(15),t(Y;15)(q12;p11) karyotype in an azoospermic male

2012

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We report on a Yq/15p translocation in a 23-year-old infertile male referred for Klinefelter Syndrome testing, who had azoospermia and bilateral small testes. Hormonal studies revealed hypergonadotropic hypogonadism. Conventional cytogenetic procedures giemsa trypsin giemsa (GTG) and high resolution banding (HRB) and molecular cytogenetic techniques Fluorescence In Situ Hybridization (FISH) performed on high-resolution lymphocyte chromosomes revealed the karyotype 46,XX, t(Y;15)(q12;p11). SRY-gene was confirmed to be present by classical Polymerase Chain Reaction (PCR) methods. His father carried de novo derivative chromosome 15 [45,X, t(Y;15)(q12;p11)] and was fertile; the karyotype of the father using G-band technique confirmed a reciprocal balanced translocation between chromosome Y and 15. In the proband, the der (15) has been inherited from the father because the mother had a normal karyotype (46,XX). In the proband, the der (15) could have produced genetic imbalance leading to unbalanced robertson translocation between chromosome Y and 15, which might have resulted in azoospermia and infertility in the proband. The paternal translocation might have lead to formation of imbalanced ova, which might be resulted infertility in the proband. Sister's karyotypes was normal (46,XX) while his brother was not analyzed.

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Prenatal Confirmation of the Translocation between Chromosome 15 and Y-Chromosome by Fluorescence in situ Hybridization.

Cited by 8 publications

References 4 publications

Prenatal diagnosis of the maternal derivative chromosome der(15)t(Y;15)(q12;p13) in a dizygotic twin pregnancy

Prenatal diagnosis of the maternal derivative chromosome der(15)t(Y;15)(q12;p13) in a dizygotic twin pregnancy

A normal birth following preimplantation genetic diagnosis by FISH determination in the carriers of der(15)t(Y;15)(Yq12;15p11) translocations: two case reports

46,XX, der(15),t(Y;15)(q12;p11) karyotype in an azoospermic male

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