X/XY Chromosome Mosaicism: Turner Syndrome and Other Clinical Conditions

Open access

X/XY Chromosome Mosaicism: Turner Syndrome and Other Clinical Conditions

The 45,X/46,XY mosaicism shows a wide spectrum of phenotypes ranging from females with Turner syndrome, male or female pseudohermaphroditism, to appearently normal male development. Chromosome anomalies accompanying Turner syndrome were found in lymphocyte cultures of 236 patients. Chromosomal analysis revealed the karyotype 45,X in 118 (50.0%) patients. X monosomy mosaics or structural rearrangements of the X chromosome was established in 112 (47.5%) patients. The Y chromosome was found in six (2.5%) patients with typical features of Turner syndrome. In five mosaics 45,X/46,XY the proportion of the XY clone ranged from 46% to 76%. In one Turner syndrome patient only 47,XYY cells were found (solely blood culture investigated). In most cases of 45,X/46,XY mosaicism, the cause is considered to be the loss of the Y chromosome because of nondisjunction after normal disomic fertilisation. Five other patients with X/XY chromosome mosaicism showed mixed gonadal dysgenesis (two patients), one male pseudohermafroditism, one male with Pierre Robin syndrome, and one normal male phenotype. In two non Turner syndrome patients nondisjunction of the primary clone 46,XY was obvious and resulted in mosaicism 45,X/46,XY/47,XYY, the one patient contained dicentric Y. The similarities between X/XY Turner syndrome and other nosological entity of females possessing Y chromosome — the Swyer syndrome — are discussed.

Alvarez-Nava, F., Soto, M., Martinez, M.C., Prieto, M., Alvarez, Z. (2003). FISH and PCR analyses in three patients with 45,X/46,X idic(Y) karyotype: Clinical and pathologic spectrum. Ann. Genet., 46(4), 443--448.

Canto, P., Galicia, N., Soderlund, D., Escudero, I., Mendez, J.P. (2004). 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., 115(1), 55--58.

Cotinot, C., Pailhoux, E., Jaubert, F., Fellous M. (2002). Molecular genetics of sex determination. Semin. Reprod. Med., 20(3), 157--167.

Gravholt, C.H., Fedder, J., Naeraa, R.W., Muller, J. (2000). Occurrence of gonadoblastoma in females with Turner syndrome and Y chromosome material: A population study. J. Clin. Endocrinol. Metab., 85, 3199--3202.

Heikkila, M., Peltoketo, H., Vainio, S. (2000). Genetic regulation of female development: Lessons from Wnt-4. In: Saenger, P. and Pasquino, A.M. (eds.). Optimizing Health Care for Turner Patients in the 21st Century. (pp. 29--49). Elsevier.

Hiort, O., Holterhus, P.M. (2000). The molecular basis of male sexual differentiation. Eur. J. Endocrinol., 142, 101--110.

Hossain, A., Saunders, G.F. (2001). The human sex-determining gene SRY is a direct target of WT1. J. Biol. Chem., 276 (20), 16817--16823.

Hsieh, Y.Y., Lin, W.C., Chang, C.C., Tsai, F.J., Yu, M.T., Tsai, H.D., Tsai, C.H. (2002). Turner syndrome with pseudodicentric Y chromosome mosaicism. J. Assoc. Reprod. Genet., 19(6), 302--303.

Hsu, L.Y.F. (1994). Phenotype/kariotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases. Amer. J. Med. Genet., 53, 108--140.

Idzelienė, I., Razbadauskas, A., Andriuškevičiūtė, I., Jurkėnienė, L., Šalomskienė, L., Sinkus, A. (2005). The inherited Robertsonian 13q14q translocation and sex chromosome aneuploidies in the same family. Biologija (Vilnius), 4, 19--23.

Just, W., Sinkus, A., Baumstark, A., Kuhn, R., Ortmann, D., Andriuškevičiūtė, I., Jurkėnienė, L., Šalomskienė, L. (2007). Sex reversal mutation analysis in a family with pure gonadal dysgenesis of XY female type. Biologija (Vilnius), 3, 16--24.

Kučinskas, L., Just, W. (2005). Human male sex determination and sexual differentiation: pathways, molecular interactions and genetic disorders. Medicina (Kaunas), 41 (8), 633--640.

Manzilla, E.E., Poggi, H., Repetto, G., Rumie, H., Garcia, H., Ugarte, F., Hidalgo, S., Jara, A., Muzzo, S., Panteon, E., Torrealba, I., Foradori, A., Cattani, A. (2003) Y chromosome sequences in Turner's syndrome: Association with virilization and gonadoblastoma. J. Pediatr. Endocrinol. Metab., 16(8), 1157--1163.

Mazzanti, L., Cicognani, A., Baldazzi, L., Bergamashi, R., Scarano, E., Strocchi, E., Nicoletti, A., Mencarelli, F., Pittalis, M., Forabosco, A., Caciari, E. (2005). Gonadoblastoma in Turner syndrome and Y-chromosome-derived material. Amer. J. Med. Genet. 135(2), 150--154.

McElreavey, K. (1996). Mechanism of sex determination in mammals. Adv. Genome Biol., 4, 304--354.

McKusick, V.A. (1998). OMIM (Online Mendelian Inheritance in Man). Catalogs of Human Genes and Genetic Disorders. Baltimore, John Hopkins Univ. Press, #306100.

Mendes, J.R.T., Strufaldi, M.W.L., Delcelo, R., Moises, R.C.M.S., Vieira, J.G., Kasamatsu, T.S., Galera, M.F., Andrade, J.A.D., Verreshi, I.T.N. (1999). Y-chromosome identification by PCR and gonadal histopathology in Turner's syndrome without overt Y-mosaicism. Endocrinology, 50, 19--26.

Parker, K.L., Schimmer, B.P., Schedl, A. (1999). Genes essential for early events in gonadal development. Cell. Mol. Life Sci., 55, 831--838.

Reddy, K.S., Sulcova, V. (1998). Pathogenesis of 45,X/46,XY gonadal mosaicism. Cytogenet. Cell. Genet., 82(1-2), 52--57.

Rooney, D.E. (ed.) (2001). Human cytogenetics: Constitutional analysis. A practical approach. Oxford: Oxford. Univ. Press, 3rd. ed., 282 p.

Sinclair, A.H., Berta, P., Palmer, M.S., Hawkins, J.R., Griffiths, B.L., Smith, M.J., Foster, J.W., Frischauf, A.M., Lovell-Badge, R., Goodfellow, P.N. (1990). A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motive. Nature, 346, 240--244.

Su, H., Lau, Y-F.C. (1993). Identification of the transcriptional unit, structural organization, and promoter sequence of the human sex-determining region Y (SRY) gene, using a reverse genetic approach. Amer. J. Hum. Genet., 52, 24--38.

Veitia, R.A., Salas-Cortes, L., Ottolenghi, C., Pailhoux, E., Cotinot, C., Fellous, M. (2001). Testis determination in mammals: more questions than answers. Mol. Cell. Endocrinol. 179, 3--16.

Verp, M.S., Simpson, J.L. (1987). Abnormal sexual differentiation and neoplasia. Cancer Genet. Cytogenet., 25, 191--218.

Journal Information

CiteScore 2017: 0.22

SCImago Journal Rank (SJR) 2017: 0.127
Source Normalized Impact per Paper (SNIP) 2017: 0.211

Metrics

All Time Past Year Past 30 Days
Abstract Views 0 0 0
Full Text Views 201 198 11
PDF Downloads 53 53 3