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Unbalanced Y;7 Translocation between Two Low-Similarity Sequences Leading to SRY-Positive 45,X Testicular Disorders of Sex Development.

Abstract

Unbalanced translocations of Y-chromosomal fragments harboring the sex-determining region Y gene (SRY) to the X chromosome or an autosome result in 46,XX and 45,X testicular disorders of sex development (DSD), respectively. Of these, Y;autosome translocation is an extremely rare condition. Here, we identified a 20-year-old man with a 45,X,t(Y;7)(q11.21;q35) karyotype, who exhibited unilateral cryptorchidism, small testis, intellectual disability, and various congenital anomalies. The fusion junction of the translocation was blunt, and the breakpoint-flanking regions shared only 50% similarity. These results indicate that Y;autosome translocations can occur between 2 low-similarity sequences, probably via nonhomologous end joining. Furthermore, translocations of a Ypterq11.21 fragment to 7q35 likely result in normal or only mildly impaired male-type sexual development, along with various clinical features of 7q deletion syndrome, although their effects on adult testicular function remain to be studied.

Authors

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Pub Type(s)

Journal Article

Language

eng

PubMed ID

31266029

Citation

Uehara, Erika, et al. "Unbalanced Y;7 Translocation Between Two Low-Similarity Sequences Leading to SRY-Positive 45,X Testicular Disorders of Sex Development." Cytogenetic and Genome Research, 2019.
Uehara E, Hattori A, Shima H, et al. Unbalanced Y;7 Translocation between Two Low-Similarity Sequences Leading to SRY-Positive 45,X Testicular Disorders of Sex Development. Cytogenet Genome Res. 2019.
Uehara, E., Hattori, A., Shima, H., Ishiguro, A., Abe, Y., Ogata, T., ... Fukami, M. (2019). Unbalanced Y;7 Translocation between Two Low-Similarity Sequences Leading to SRY-Positive 45,X Testicular Disorders of Sex Development. Cytogenetic and Genome Research, doi:10.1159/000501378.
Uehara E, et al. Unbalanced Y;7 Translocation Between Two Low-Similarity Sequences Leading to SRY-Positive 45,X Testicular Disorders of Sex Development. Cytogenet Genome Res. 2019 Jul 3; PubMed PMID: 31266029.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Unbalanced Y;7 Translocation between Two Low-Similarity Sequences Leading to SRY-Positive 45,X Testicular Disorders of Sex Development. AU - Uehara,Erika, AU - Hattori,Atsushi, AU - Shima,Hirohito, AU - Ishiguro,Akira, AU - Abe,Yu, AU - Ogata,Tsutomu, AU - Ogawa,Eishin, AU - Fukami,Maki, Y1 - 2019/07/03/ PY - 2019/04/29/accepted PY - 2019/7/3/entrez PY - 2019/7/3/pubmed PY - 2019/7/3/medline KW - 7q Deletion KW - DSD KW - Nonhomologous end joining KW - Sex chromosome KW - Translocation JF - Cytogenetic and genome research JO - Cytogenet. Genome Res. N2 - Unbalanced translocations of Y-chromosomal fragments harboring the sex-determining region Y gene (SRY) to the X chromosome or an autosome result in 46,XX and 45,X testicular disorders of sex development (DSD), respectively. Of these, Y;autosome translocation is an extremely rare condition. Here, we identified a 20-year-old man with a 45,X,t(Y;7)(q11.21;q35) karyotype, who exhibited unilateral cryptorchidism, small testis, intellectual disability, and various congenital anomalies. The fusion junction of the translocation was blunt, and the breakpoint-flanking regions shared only 50% similarity. These results indicate that Y;autosome translocations can occur between 2 low-similarity sequences, probably via nonhomologous end joining. Furthermore, translocations of a Ypterq11.21 fragment to 7q35 likely result in normal or only mildly impaired male-type sexual development, along with various clinical features of 7q deletion syndrome, although their effects on adult testicular function remain to be studied. SN - 1424-859X UR - https://www.unboundmedicine.com/medline/citation/31266029/Unbalanced_Y L2 - https://www.karger.com?DOI=10.1159/000501378 DB - PRIME DP - Unbound Medicine ER -