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ISSN 1561-3194 (Electronic)

2015, Number 3

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Rev Ciencias Médicas 2015; 19 (3)

Abnormal Karyotype: 45, XXt (13q; 14q) 5p+++

Santana HE, Tamayo CVJ, Sánchez DJA, Rosas HM, Paneque ÁM

Language: Spanish
References: 10
Page: 564-569
PDF size: 163.51 Kb.


ABSTRACT

The karyotype study performed to an 8-year-old female patient, under previous study due to moderate intellectual disability and facial dysmorphias in the limbs, showed the following results: 45, XXt (13q; 14q) 5p+++. In this study a chromosomal finding of an inherited Robertsonian translocations by maternal line combined with a partial trisomy of chromosome 5p was reported.


REFERENCES

  1. Pylyp LY, Spinenko LA, Zukin VD, Bilko NM. Meiotic segregation of chromosomes 13 and 14 of heterozygous Robertsonian translocation der (13; 14) (q10; q10) carriers. Tsitol Genet. 2014 May-Jun; 48(3): 48-53.

  2. Choi BH, Kim UH, Lee KS, Ko CW. Various endocrine disorders in children with (13; 14) (q10; q10) Robertsonian translocation. Ann Pediatr Endocrinol Metab [internet]. 2013 Sep; 18(3):111-5.

  3. Kuroda S, Yumura Y, Yasuda K, Yamanaka H, Takeshima T, et al. Clinical investigation of male infertile patients with chromosomal anomalies. Hinyokika Kiyo. 2014 Jul; 60(7): 309-13.

  4. Volleth M, Heller KG, Yong HS, Müller S. Karyotype evolution in the horseshoe bat Rhinolophus sedulus by whole-arm reciprocal translocation (WART). Cytogenet Genome Res. 2014; 143(4):241-50.

  5. Vozdova M, Sebestova H, Kubickova S, Cernohorska H, Awadova T, Vahala J, Rubes J. Impact of Robertsonian translocation on meiosis and reproduction: an impala (Aepyceros melampus) model. J Appl Genet. 2014; 55(2):249-58.

  6. Kirkpatrick G, Ren H, Liehr T, Chow V, Ma S. Meiotic and sperm aneuploidy studies in three carriers of Robertsonian translocations and small supernumerary marker chromosomes. Fertil Steril. 2015 May. 103(5): 1162–1169.e7.

  7. Gaboon NE, Mohamed AR, Elsayed SM, Zaki OK, Elsayed MA. Structural chromosomal abnormalities in couples with recurrent abortion in Egypt Turk J Med Sci. 2015; 45(1):208-13.

  8. De Krom G, Arens YH, Coonen E, Van Ravenswaaij-Arts CM, Meijer-Hoogeveen M, et al. Recurrent miscarriage in translocation carriers: no differences in clinical characteristics between couples who accept and couples who decline PGD. Hum Reprod. 2015 Feb; 30(2):484-9.

  9. Kuroda S, Yumura Y, Yasuda K, Yamanaka H, Takeshima T, et al. Clinical investigation of male infertile patients with chromosomal anomalies. Hinyokika Kiyo. 2014 Jul; 60(7):309-13.

  10. Kolgeci S, Kolgeci J, Azemi M, Shala R, Dakas A, Sopjani M. Reproductive risk of the silent carrier of Robertsonian translocation. Med Arch. 2013; 67(1):56-9.




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