Characterization of a de novo balanced 1;Y translocation in a phenotypically normal twin male infant

Hatzissevastou-Loukidou, H.; Kalemi, Theodora G.; Lambropoulos, Alexandros; Nikita, Maria Eleni; Sotiridou, Ellada; Tarlatzis, Basil C.; Kotsis, A.

doi:10.1016/j.fertnstert.2005.09.058

Cited by 2 publications

(1 citation statement)

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“…This use of ICSI increases the probability of an abnormal sperm to be selected for fertilization, and consequently, anomalies at different levels of paternal genomic organization can affect reproductive potential and the results of techniques of assisted reproduction. Recent evidence suggests that sperm that contains microdeletions in the Y chromosome can be associated with fertilization, embryogenesis or impaired fetal development (Hatzissevastou-Loukidou et al, 2006). Due to ICSI techniques being used generally in patients with microdeletions in the Y chromosome, thereby leading to considerable risk of passing the deletion on to the progeny (Cram et al, 2006), appropriate genetic counseling followed by detailed family history and specific molecular and cytogenetic analyses are recommended.…”

Section: Discussionmentioning

confidence: 99%

Tracking microdeletions of the AZF region in a patrilineal line of infertile men

Rodovalho¹,

Arruda²,

Moura³

2008

Genet. Mol. Res.

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ABSTRACT. Male infertility is considered to be a difficult-to-treat condition because it is not a single entity, but rather reflects a variety of different pathologic conditions, thus making it difficult to use a single treatment strategy. Structural alterations in the Y chromosome have been the principal factor responsible for male infertility. We examined 26 family members of 13 patients with male infertility who showed deletions in the AZF region. In family 1, the father and a brother did not show microdeletions. However, a son showed a microdeletion in AZFa (sY84) and an azoospermic sperm analysis, but another son had a microdeletion in AZFa (sY84) and AZFb (sY127) and a normal sperm analysis. The father of family 2, with severe oligozoospermia, had a microdeletion in the AZFa region (sY84) and his son, conceived by intracytoplasmic sperm injection, also showed the same microdeletion. In the other families, only the men with an altered sperm analysis had a microdeletion. It is possible that in family 1, the father and brother who did not show microdeletions in this study, could have microdeletions in regions upstream or downstream of the one analyzed. The treatment with intracytoplasmic sperm injection can result in vertical transmission of microdeletions of the AZF region and can also cause the expansion of a de novo mutation. This finding reinforces the necessity of an

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Section: Discussionmentioning

confidence: 99%