Y chromosome microdeletions: are they implicated in teratozoospermia?

Hellani, Ali; Al-Hassan, Saad; Al-Duraihim, Adel; Coşkun, Serdar

doi:10.1093/humrep/dei254

Cited by 9 publications

(8 citation statements)

References 43 publications

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“…These deletions can be considered as nonfunctional variations because they occurred in all groups. Similar results were found by Hellani et al (2005), who reported a deletion of STS 5, 6, 10, 9, 13, and 14 in the normozoospermia group, with a sperm count of more than 20 × 10 6 spz/mL. In our study the deletions of all other STSs can be considered functional and important in the development of spermatogenesis, because they were significantly associated with a severe spermatogenic phenotype.…”

Section: Discussionsupporting

confidence: 92%

“…In the last few years, the Y chromosome—specific sequence tagged site (STS) markers were used in a great number of clinical studies to identify microdeletions in DNA from peripheral blood lymphocytes (Kleiman et al, 2001) and from sperm (Hellani et al, 2005) of infertile males. Many publications have determined the prevalence of such deletions in male infertility.…”

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confidence: 99%

“…However, a few studies screened a more random group of men (Krausz et al, 1999; Van Landuyt et al, 2000). A few nonpolymorphic deletions were found in individuals with higher sperm counts (5 × 10 6 −20 × 10 6 /mL) (Kent‐First et al, 1999), even normozoospermia (more than 20 × 10 6 /mL) (Pryor et al, 1997) and teratospermia (Hellani et al, 2005), and also in a few nonidiopathic infertile men with abnormalities such as undescended testes, obstruction of vas deferens, and varicocele (Simoni et al, 1998). As a result it is unclear whether a wider selection of patients attending a fertility clinic should undergo genetic screening.…”

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confidence: 99%

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Tag STS in the AZF Region Associated With Azoospermia in a Tunisian Population

Hadjkacem-Loukil¹,

Ayadi

Bahloul

et al. 2007

Journal of Andrology

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The aim of this study was to determine the appropriate tag sequence tagged site (STS) associated with azoospermia. We evaluated the incidence of Y chromosome microdeletions in Tunisian infertile male patients by polymerase chain reaction using 14 STSs in the azoospermia factor (AZF) region of Yq11. A logistic regression analysis was performed to test the association of STSs with semen quality. Haploview version 3.11 was used to identify the possible blocks of deletion involving a minimum number of STSs and that can be used to tag the deletion block in future analysis. Using the 14 STSs, 48% infertile patients (102 of 210) had microdeletions of Y chromosome but, following the European Academy of Andrology guidelines, only 16% of patients had microdeletions. A statistically significant difference was found with some STSs for azoospermia and oligozoospermia. A candidate combinaison composed of 4 STSs (RBMY-sy157-sy84-sy130) was associated with azoospermia in a Tunisian population. According to this study, this tag can be used in the screening of Y chromosome microdeletions before assisted reproduction treatment in a Tunisian population.

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Section: Discussionsupporting

confidence: 92%

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confidence: 99%

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confidence: 99%

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Tag STS in the AZF Region Associated With Azoospermia in a Tunisian Population

Hadjkacem-Loukil¹,

Ayadi

Bahloul

et al. 2007

Journal of Andrology

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“…7607, Umm Al-Qura University, Makkah, KSA; Mobile: +966-553692180; Fax: +966-2-5270000 (ext 4659); E-mail: nasgenet@hotmail.com; naelhawary@uqu.edu.sa DNA from blood [5] and sperm [6] of infertile men. Most studies have focused on men with low sperm counts, so most of the deletions that have been found are associated with azoospermia and severe oligospermia.…”

Section: Introductionmentioning

confidence: 99%

Common Tag STSs in the AZF Region Associated with Azoospermia and Severe Oligospermia in Infertile Egyptian Men~!2009-12-21~!2010-04-13~!2010-06-18~!

Elhawary¹,

Seifeldin²,

Zaki³

et al. 2010

TOANDROJ

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Abstract:Screening of Yq has become one of the most frequently performed postnatal molecular genetic tests in Egypt. Our purpose was to determine the tag sequence-tagged sites (STSs) in the AZF -region of Yq associated with azoospermia and severe oligospermia in infertile Egyptian men. We analyzed blood samples from 49 infertile men (28 with azoospermia and 21 with severe oligospermia) using multiplex PCR for six common AZFa, AZFb, and AZFc STS markers,, as recommended by the European Academy of Andrology. Twenty-four (37%) microdeletions with five separate deletions were identified. We found 66.7% of the deletions in the AZFb locus, 20.8% in the AZFa locus, and 12.5% in the AZFc locus. Some common haplotypes (7 of 10) were identified in our sample population. Haplotypes H3 (corresponding to sY127) and H4 (corresponding to sY134) were the most common. We suggest that screening with a minimum of three STSs-sY86, sY127, and sY134-would provide the highest level of clinical sensitivity in genetic testing among infertile Egyptian men. Moreover, separate microdeletions were localized in infertile Y-chromosome patients.

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“…To validate the aCGH results, we performed FISH under standard procedures using a whole chromosome 19 painting probe (WCP19; Oncor TM , Paris, France) on metaphases of the patient and his father. To confirm the integrity of the Y chromosome, amplification of the SRY gene and 22 sequence-tagged sites belonging to AZFa, AZFb, and AZFc regions and the Yq12 heterochromatin (sY160) was performed by multiplex PCR (conditions available upon request) according to primer sequences reported by Hellani et al [2005] and Krausz et al [2014].…”

Section: Cytogenetic and Molecular Analysismentioning

confidence: 99%

Nonmosaic Trisomy 19p13.3p13.2 Resulting from a Rare Unbalanced t(Y;19)(q12;p13.2) Translocation in a Patient with Pachygyria and Polymicrogyria

Anaya

Hernández²,

Ángel³

et al. 2020

Cytogenet Genome Res

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Nonmosaic trisomy involving 19p13.3p13.2 is a very uncommon abnormality. At present, only 12 cases with this genetic condition have been reported in the literature. However, the size of the trisomic fragment is heterogeneous and thus, the clinical spectrum is variable. Herein, we report the clinical and cytogenetic characterization of a 5-year-old boy with nonmosaic trisomy 19p13.3p13.2 (7.38 Mb), generated by a derivative Y chromosome resulting from a de novo unbalanced translocation t(Y;19)(q12;p13.2). We demonstrated the integrity of the euchromatic regions in the abnormal Y chromosome to confirm the pure trisomy 19p. Our patient shares some clinical features described in other reported patients with pure trisomy 19p, such as craniofacial anomalies, developmental delay, and heart defects. Different to previous reports, our case exhibits frontal pachygyria and polymicrogyria. These additional features contribute to further delineate the clinical spectrum of trisomy 19p13.3p13.2.

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Y chromosome microdeletions: are they implicated in teratozoospermia?

Cited by 9 publications

References 43 publications

Tag STS in the AZF Region Associated With Azoospermia in a Tunisian Population

Tag STS in the AZF Region Associated With Azoospermia in a Tunisian Population

Common Tag STSs in the AZF Region Associated with Azoospermia and Severe Oligospermia in Infertile Egyptian Men~!2009-12-21~!2010-04-13~!2010-06-18~!

Nonmosaic Trisomy 19p13.3p13.2 Resulting from a Rare Unbalanced t(Y;19)(q12;p13.2) Translocation in a Patient with Pachygyria and Polymicrogyria

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