Authors:
László Ságodi Borsod County and University Hospital Miskolc Childcare Center, Department of Pediatrics No. III Szentpéteri kapu 72 H-3501 Miskolc Hungary

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Enikő Sólyom Borsod County and University Hospital Miskolc Childcare Center, Department of Pediatrics No. III Szentpéteri kapu 72 H-3501 Miskolc Hungary

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András Tóth National Medical Center Department of Obstetrics and Gynaecology Budapest Hungary

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Anna Kékesi National Medical Center Department of Obstetrics and Gynaecology Budapest Hungary

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Erika P. Tardy National Medical Center Department of Obstetrics and Gynaecology Budapest Hungary

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Éva Borbás Borsod County and University Hospital Miskolc Department of Pediatric Radiology Szentpéteri kapu 72 H-3501 Miskolc Hungary

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Teofil Rétfalvi Ferenc Markhot Hospital Genetic Laboratory Eger Hungary

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Ákos Kiss Borsod County and University Hospital Miskolc Department of Pediatric Surgery Szentpéteri kapu 72 H-3501 Miskolc Hungary

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Anikó Korcsmáros Borsod County and University Hospital Miskolc Department of Pathology Szentpéteri kapu 72 H-3501 Miskolc Hungary

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Authors report a case of mixed gonadal dysgenesis with a karyotype containing an isodicentric Y chromosome in mosaic form, which was diagnosed in an infant. They emphasize the necessity of special investigations of newborns with perineoscrotal hypospadias and bilateral or unilateral maldescent testes, immediately after birth. The result of accurate evaluation provides correct sex assignment and the prevention of neoplastic transformation of the dysgenetic gonad.

  • Aktas, D., Alikasifoglu, M., Gonc, N. et al.: Isodicentric Y (p11.32) chromosome in an infant with mixed gonadal dysgenesis. Eur. J. Med. Genet., 2006, 49 , 141–149.

    Gonc N. , 'Isodicentric Y (p11.32) chromosome in an infant with mixed gonadal dysgenesis ' (2006 ) 49 Eur. J. Med. Genet. : 141 -149 .

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  • Alvarez-Nava, F., Soto, M., Martinez, M. C. et al.: FISH and PCR analyses in three patients with 45,X/46,X, idic(Y) karyotype: clinical and pathologic spectrum. Ann. Genet., 2003, 46 , 443–448.

    Martinez M. C. , 'FISH and PCR analyses in three patients with 45,X/46,X, idic(Y) karyotype: clinical and pathologic spectrum ' (2003 ) 46 Ann. Genet. : 443 -448 .

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  • Bagei, G., Acar, H., Tomruk, H.: Different chromosome Y abnormalities in Turner syndrome. Genet. Couns., 2001, 12 , 255–261.

    Tomruk H. , 'Different chromosome Y abnormalities in Turner syndrome ' (2001 ) 12 Genet. Couns. : 255 -261 .

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  • Canto, P., Galicia, N., Soderlund, D. et al.: Screening for mutations in the SRY gene in patients with mixed gonadal dysgenesis or with Turner syndrome and Y mosaicism. Eur. J. Obstet. Gynecol. Reprod. Biol., 2004, 115 , 55–58.

    Soderlund D. , 'Screening for mutations in the SRY gene in patients with mixed gonadal dysgenesis or with Turner syndrome and Y mosaicism ' (2004 ) 115 Eur. J. Obstet. Gynecol. Reprod. Biol. : 55 -58 .

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  • Canto, P., Vilchis, F., Soderlund, D. et al.: A heterozygous mutation in the desert hedgehog gene in patients with mixed gonadal dysgenesis. Mol. Hum. Reprod., 2005, 11 , 833–836.

    Soderlund D. , 'A heterozygous mutation in the desert hedgehog gene in patients with mixed gonadal dysgenesis ' (2005 ) 11 Mol. Hum. Reprod. : 833 -836 .

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  • Dundar, M., Lowther, G., Acar, H. et al.: A case of ambiguous genitalia presenting with a 45,X/46,Xr(Y)(p11.2; q11.23)/ 47,X, idic(Y) (p11.2), idic(Y)(p11.2) karyotype. Ann. Genet., 2001, 44 , 5–8.

    Acar H. , 'A case of ambiguous genitalia presenting with a 45,X/46,Xr(Y)(p11.2; q11.23)/ 47,X, idic(Y) (p11.2), idic(Y)(p11.2) karyotype ' (2001 ) 44 Ann. Genet. : 5 -8 .

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  • Hernando, C., Carrera, M., Ribas, I. et al.: Prenatal and postnatal characterization of Y chromosome structural anomalies by molecular cytogenetic analysis. Prenat. Diagn., 2002, 22 , 802–805.

    Ribas I. , 'Prenatal and postnatal characterization of Y chromosome structural anomalies by molecular cytogenetic analysis ' (2002 ) 22 Prenat. Diagn. : 802 -805 .

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  • Kirsch, S., Weiss, B., De Rosa, M. et al.: FISH deletion mapping defines a single location for the Y chromosome stature gene, GCY. J. Med. Genet., 2000, 37 , 593–599.

    Rosa M. , 'FISH deletion mapping defines a single location for the Y chromosome stature gene, GCY ' (2000 ) 37 J. Med. Genet. : 593 -599 .

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  • Kolon, T. F., Gray, C. L., Borboroglu, P. G.: Prenatal karyotype and ultrasound discordance in intersex conditions. Urology, 1999, 54 , 1097xvi–1097xix.

    Borboroglu P. G. , 'Prenatal karyotype and ultrasound discordance in intersex conditions ' (1999 ) 54 Urology : 1097xvi -1097xix .

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  • Marcus-Soekarman, D., Hamers, G., Mulder, A. L. et al.: Sonographic genital ambiguity in a fetus due to a mosaic 45,X/46,X, idic(Y)(qter-p11.32:p11.32-qter) karyotype. Prenat. Diagn., 2005, 25 , 279–282.

    Mulder A. L. , 'Sonographic genital ambiguity in a fetus due to a mosaic 45,X/46,X, idic(Y)(qter-p11.32:p11.32-qter) karyotype ' (2005 ) 25 Prenat. Diagn. : 279 -282 .

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  • Marrocco, G., Poscente, M., Majore, S. et al.: Clinical management and molecular cytogenetic characterization in a 45,X/46,X,idic(Yp) patient with severe hypospadia. J. Pediatr. Surg., 2003, 38 , 1258–1262.

    Majore S. , 'Clinical management and molecular cytogenetic characterization in a 45,X/46,X,idic(Yp) patient with severe hypospadia ' (2003 ) 38 J. Pediatr. Surg. : 1258 -1262 .

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  • Raff, R., Schubert, R., Schwanitz, G. et al.: Combination of hypospadias and maldescended testis as cardinal symptoms in gonosomal chromosome aberrations. Eur. J. Pediatr. Surg., 2000, 10 , 270–275.

    Schwanitz G. , 'Combination of hypospadias and maldescended testis as cardinal symptoms in gonosomal chromosome aberrations ' (2000 ) 10 Eur. J. Pediatr. Surg. : 270 -275 .

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  • Rivera, H., Ayala-Madrigal, L. M., Gutierrez-Angulo, M. et al.: Isodicentric Y chromosomes and secondary microchromosomes. Genet. Couns., 2003, 14 , 227–231.

    Gutierrez-Angulo M. , 'Isodicentric Y chromosomes and secondary microchromosomes ' (2003 ) 14 Genet. Couns. : 227 -231 .

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  • Stankiewicz, P., Helias-Rodzewicz, Z., Jakubow-Durska, K. et al.: Cytogenetic and molecular characterization of two isodicentric Y chromosomes. Am. J. Med. Genet., 2001, 101 , 20–25.

    Jakubow-Durska K. , 'Cytogenetic and molecular characterization of two isodicentric Y chromosomes ' (2001 ) 101 Am. J. Med. Genet. : 20 -25 .

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  • Queipo, G., Nieto, K., Grether, P. et al.: Unusual mixed gonadal dysgenesis associated with Mullerian duct persistence, polygonadia, and a 45,X/46,X,idic(Y)(p) karyotype. Am. J. Med. Genet., 2005, 136 , 386–389.

    Grether P. , 'Unusual mixed gonadal dysgenesis associated with Mullerian duct persistence, polygonadia, and a 45,X/46,X,idic(Y)(p) karyotype ' (2005 ) 136 Am. J. Med. Genet. : 386 -389 .

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    Martinez J. E. , 'Isodicentric Y chromosome: cytogenetic, molecular and clinical studies and review of the literature ' (1995 ) 96 Hum. Genet. : 119 -129 .

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  • Weckworth, P. F., Johnson, H. W., Pantzar, J. T. et al.: Dicentric Y chromosome and mixed dysgenesis. J. Urol., 1988, 139 , 91–94.

    Pantzar J. T. , 'Dicentric Y chromosome and mixed dysgenesis ' (1988 ) 139 J. Urol. : 91 -94 .

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Hungarian Medical Journal
Language English
Size  
Year of
Foundation
2007
Publication
Programme
ceased
Volumes
per Year
 
Issues
per Year
 
Publisher Akadémiai Kiadó
Publisher's
Address
H-1117 Budapest, Hungary 1516 Budapest, PO Box 245.
Responsible
Publisher
Chief Executive Officer, Akadémiai Kiadó
ISSN 1788-6139 (Print)
ISSN 1789-0403 (Online)