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
N1 - Funding Information:
This study was supported by Grants from the Japan Society for the Promotion of Science (17H06428), the Japan Agency for Medical Research and Development (18ek0109266h0002), the National Center for Child Health and Development (2019A-1), and Sandoz. The sponsors had no role in the study design, in the collection, analysis or interpretation of data, in the writing of the report or in the decision to submit the report for publication.
Publisher Copyright:
© 2019 S. Karger AG, Basel. All rights reserved.
PY - 2019/9/1
Y1 - 2019/9/1
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.
AB - 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.
KW - 7q Deletion
KW - DSD
KW - Nonhomologous end joining
KW - Sex chromosome
KW - Translocation
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U2 - 10.1159/000501378
DO - 10.1159/000501378
M3 - Article
C2 - 31266029
AN - SCOPUS:85068521080
VL - 158
SP - 115
EP - 120
JO - Cytogenetic and Genome Research
JF - Cytogenetic and Genome Research
SN - 1424-8581
IS - 3
ER -