Dicentric Y chromosome in an azoospermic male

Yoshida, Atsumi; Nakahori, Yutaka; Kuroki, Yoshio; Motoyama, Mitsuhiro; Araki, Yasuhisa; Miura, Kazukiyo; Shirai, Masamitsu

doi:10.1093/molehr/3.8.709

Cited by 32 publications

(17 citation statements)

References 15 publications

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“…More recently, Y-chromosome microdeletions have been identified in a small number of such 45,X/46,XY mosaic karyotypes [Patsalis et al, 1997;Yoshida et al, 1997;Oliva et al, 1998;Jaruzelska et al, 2001]. This intriguing data suggests a potential link between Y deletions and the complete loss of the Y chromosome.…”

Section: Introductionmentioning

confidence: 92%

Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y‐chromosome instability

Patsalis

Skordis

Sismani

et al. 2005

American J of Med Genetics Pt A

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A mosaic karyotype consisting of a 45,X cell line and a second cell line containing a normal or an abnormal Y chromosome is relatively common and is associated with a wide spectrum of clinical phenotypes. The aim of this study was to investigate patients with such a mosaic karyotype for Y chromosome material loss and then study the possible association of the absence of these regions with the phenotype, diagnosis, and Y-chromosome instability. We studied 17 clinically well-characterized mosaic patients whose karyotype consisted of a 45,X cell line and a second cell line containing a normal or an abnormal Y chromosome. The presence of the Y chromosome centromere was verified by fluorescence in situ hybridization (FISH) and was then characterized by 44 Y-chromosome specific-sequence tagged site (STS) markers. This study identifies a high frequency of Yq chromosome deletions (47%). The deletions extend from interval 5 to 7 sharing a common deleted interval (6F), which overlaps with the azoospermia factor region (AZF) region. This study finds no association between Y-chromosome loci hosting genes other than SRY, and the phenotypic sex, the diagnosis, and the phenotype of the patients. Furthermore, this study shows a possible association of these deletions with Y-chromosome instability.

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Section: Introductionmentioning

confidence: 92%

Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y‐chromosome instability

Patsalis

Skordis

Sismani

et al. 2005

American J of Med Genetics Pt A

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“…Among these structural abnormalities, dicentric Y chromosomes are the most commonly found [2,3]. These dicentric Y chromosomes correspond to two different types: dic (Yq), resulting from the fusion between the short arms of two Y chromosomes in which some Yp material is maintained, and dic (Yp) arising from fusion at the Yq arms.…”

Section: Introductionmentioning

confidence: 99%

A non-mosaic isodicentric Y chromosome resulting from breakage and fusion at the Yq pseudo-autosomal region in a fetus

Kuan

Chen

et al. 2013

J Assist Reprod Genet

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The dicentric Y chromosomes are the most commonly found in the structural aberration of Y chromosome. If the dicentric chromosome has completely symmetric arms, it is considered an isodicentric chromosome. The sites of breakage and fusion at Yp and Yq are variable, but breakage and fusion at the pseudo-autosomal region has never been reported. Herein we reported identification de novo isodicentric (Yq12) in a fetus. The fusion occurred at Yq pseudo-autosomal region very close the telomere and resulted in duplication of Y chromosome. The baby was grossly normal at birth. In conclusion, isodicentric Y chromosome could result from breakage and fusion at the Yq pseudo-autosomal region.

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“…These patients or their families should be informed accordingly [Sasagawa et al, 1996;Yoshida et al, 1997].…”

Section: Resultsmentioning

confidence: 99%

A Rare Mosaic Karyotype of 45,X/46,X,psu idic(Y)(p11.32)/46,XY with <b><i>SHOX</i></b> Haploinsufficiency, External Male Genitalia, and Short Stature

Ekici¹,

Esener²,

Korkmaz³

et al. 2018

Sex Dev

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In this case study, we describe a 3-year-old boy who was referred to the Inonu University Hospital with short stature complaint. His height was 86 cm (-2.96 SDS), weight was 12 kg (-2.43 SDS), and head circumference was 46.5 cm (-2.34 SDS). Chromosomal analyses were performed on cultured peripheral blood lymphocytes of the patient and his parents and showed the patient's karyotype mos 45,X[20]/46,X,idic(Y)(p11.32)[29]/46,XY[1]. The karyotypes of the parents were normal. Subsequently, specific FISH probes were hybridized to the related regions of the sex-determining region Y (SRY), centromere X/Y (CEP X/Y), and short stature homeobox (SHOX) genes. Simultaneous SNP array-CGH was conducted. As to our knowledge, we present the first patient with mosaic isodicentric Y chromosome with 3 different cell lines and normal male external genitalia. Our results suggest that it would be beneficial to study cytogenetic and molecular cytogenetic methods together for better diagnostic accuracy and treatment.

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Dicentric Y chromosome in an azoospermic male

Cited by 32 publications

References 15 publications

Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y‐chromosome instability

Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y‐chromosome instability

A non-mosaic isodicentric Y chromosome resulting from breakage and fusion at the Yq pseudo-autosomal region in a fetus

A Rare Mosaic Karyotype of 45,X/46,X,psu idic(Y)(p11.32)/46,XY with <b><i>SHOX</i></b> Haploinsufficiency, External Male Genitalia, and Short Stature

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