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.

Ayub S, Gadji M, Krabchi K, Cote S, Gekas J, et al: Three new cases of terminal deletion of the long arm of chromosome 7 and literature review to correlate genotype and phenotype manifestations. Am J Med Genet A 170A:896-907 (2016).
Bilen S, Okten A, Karaguzel G, Ikbal M, Aslan Y: A 45 X male patient with 7q distal deletion and rearrangement with SRY gene translocation: a case report. Genet Couns 24:299-305 (2013).
Bonaglia MC, Kurtas NE, Errichiello E, Bertuzzo S, Beri S, et al: De novo unbalanced translocations have a complex history/aetiology. Hum Genet 137:817-829 (2018).
Caro-Domínguez P, Bass J, Hurteau-Miller J: Currarino syndrome in a fetus, infant, child, and adolescent: spectrum of clinical presentations and imaging findings. Can Assoc Radiol J 68:90-95 (2017).
Chen CP, Lin SP, Tsai FJ, Wang TH, Chern SR, Wang W: Characterization of a de novo unbalanced Y;autosome translocation in a 45,X mentally retarded male and literature review. Fertil Steril 90:1198.e11-18 (2008).
Cui YX, Xia XY, Pan LJ, Wang YH, Yao B, Huang YF: An infertile male with apparent 45,X turned out to have 45,X,der(Y)t(Y;13)(q11.2;q12),-13: clinicopathologic and cytogenomic studies. Fertil Steril 88:1676.e7-11 (2007).
Dati E, Valetto A, Bertini V, Chiocca E, Baroncelli GI, et al: 45,X maleness: clinical and cytogenetic features in two patients. Sex Dev 5:281-286 (2011).
Délot EC, Vilain EJ: Nonsyndromic 46,XX testicular disorders of sex development, in Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, et al (eds): GeneReviews® [Internet] (University of Washington, Seattle 1993-2019). Initial posting: October 30, 2003; last update: May 5, 2015.
de Ravel TJ, Fryns JP, Van Driessche J, Vermeesch JR: Complex chromosome re-arrangement 45,X,t(Y;9) in a girl with sex reversal and mental retardation. Am J Med Genet A 124A:259-262 (2004).
Gerdes P, Richardson SR, Mager DL, Faulkner GJ: Transposable elements in the mammalian embryo: pioneers surviving through stealth and service. Genome Biol 17:100 (2016).
Gifford WD, Pfaff SL, Macfarlan TS: Transposable elements as genetic regulatory substrates in early development. Trends Cell Biol 23:218-226 (2013).
Gunel M, Cavkaytar S, Ceylaner G, Batioglu S: Azoospermia and cryptorchidism in a male with a de novo reciprocal t(Y;16) translocation. Genet Couns 19:277-280 (2008).
Hall HE, Hawley RS: The hows and Ys of genome integrity. Cell 138:830-832 (2009).
Kirsch S, Weiss B, Kleiman S, Roberts K, Pryor J, et al: Localisation of the Y chromosome stature gene to a 700 kb interval in close proximity to the centromere. J Med Genet 39:507-513 (2002).
Laberge RM, Boissonneault G: On the nature and origin of DNA strand breaks in elongating spermatids. Biol Reprod 73:289-296 (2005).
Lopez V, Barinova N, Onishi M, Pobiega S, Pringle JR, et al: Cytokinesis breaks dicentric chromosomes preferentially at pericentromeric regions and telomere fusions. Genes Dev 29:322-336 (2015).
Lopez-Rios J: The many lives of SHH in limb development and evolution. Semin Cell Dev Biol 49:116-124 (2016).
Mareri A, Iezzi M, Salvatore A, Ligas C, D'Alessandro E: A unique case of growth hormone and human chorionic gonadotropin treatment in a 45,X male with Y: autosome translocation and literature review. J Pediatr Endocrinol Metab 29:857-862 (2016).
Matsuo N, Anzo M, Sato S, Ogata T, Kamimaki T: Testicular volume in Japanese boys up to the age of 15 years. Eur J Pediatr 159:843-845 (2000).
Nakashima S, Watanabe Y, Okada J, Ono H, Nagata E, et al: Critical role of Yp inversion in PRKX/PRKY-mediated Xp;Yp translocation in a patient with 45,X testicular disorder of sex development. Endocr J 60:1329-1334 (2013).
Nakashima S, Ohishi A, Takada F, Kawamura H, Igarashi M, et al: Clinical and molecular studies in four patients with SRY-positive 46,XX testicular disorders of sex development: implications for variable sex development and genomic rearrangements. J Hum Genet 59:549-553 (2014).
Ogata T, Tyler-Smith C, Purvis-Smith S, Turner G: Chromosomal localisation of a gene(s) for Turner stigmata on Yp. J Med Genet 30:918-922 (1993).
Peng D, Zhang YS, Zhang XY, Hu C, Liu MH, Liu RZ: An infertile 45,X male with a SRY-bearing chromosome 13: a clinical case report and literature review. J Assist Reprod Genet 32:107-109 (2015).
Röpke A, Stratis Y, Dossow-Scheele D, Wieacker P, Kliesch S, Tüttelmann F: Mosaicism for an unbalanced Y;21 translocation in an infertile man: a case report. J Assist Reprod Genet 30:1553-1558 (2013).
Ross AJ, Ruiz-Perez V, Wang Y, Hagan DM, Scherer S, et al: A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. Nat Genet 20:358-361 (1998).
Schiebel K, Winkelmann M, Mertz A, Xu X, Page DC, et al: Abnormal XY interchange between a novel isolated protein kinase gene, PRKY, and its homologue, PRKX, accounts for one third of all (Y+)XX males and (Y-)XY females. Hum Mol Genet 6:1985-1989 (1997).
Solomon BD, Bear KA, Wyllie A, Keaton AA, Dubourg C, et al: Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog. J Med Genet 49:473-479 (2012).
Vasquez-Velasquez AI, Arnaud-Lopez L, Figuera LE, Padilla-Gutierrez JR, Rivas F, Rivera H: Ambiguous genitalia by 9p deletion inherent to a dic(Y;9)(q12;p24). J Appl Genet 46:415-418 (2005).
Weckselblatt B, Rudd MK: Human structural variation: mechanisms of chromosome rearrangements. Trends Genet 31:587-599 (2015).
Wu QY, Li N, Li WW, Li TF, Zhang C, et al: Clinical, molecular and cytogenetic analysis of 46,XX testicular disorder of sex development with SRY-positive. BMC Urol 14:70 (2014).
Zenteno-Ruiz JC, Kofman-Alfaro S, Mendez JP: 46,XX sex reversal. Arch Med Res 32:559-566 (2001).
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.