Two Rare Variants of Down Syndrome: Down-Turner Syndrome and Down Syndrome with Translocation (13;14): A Case Report
Abstract
In the present paper, we report two rare cases of Down syndrome (DS); mosaic Down-Turner syndrome and DS with rob (13;14). Patient 1 karyotype is mos 45,X[41] / 47, XX,+21[59] and patient 2 karyotype is 46, XY, rob (13;14)(q10;q10),+21. With these two unusual cases, we aimed to look at the most common numerical and structural chromosome anomalies from a different window and evaluate the phenotypic effect in the presence of different chromosomal anomalies. Our main goal is to evaluate the phenotypic characteristics of these two rare variants in the light of literature.
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7. Manassero-Morales G, Alvarez-Manassero D, Merino-Luna A (2016). Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality. Case Rep Pediatr, 2016:1–3.
8. Kovaleva NV, Butomo IV, Verlinskaia DK et al (1999). Karyological characteristics of Down’s syndrome: clinical and theoretical aspects. Tsitologiia, 41(12):1014–21.
9. Ford CE, Jones KW, Miller OJ, et al (1959). The chromosomes in a patient showing both mongolism and the Klinefelter syndrome. Lancet, 1(7075):709–10.
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11. Pachajoa H (2013). Doble aneuploidía (trisomía X, trisomía 18) en una recién nacida con fenotipo de trisomía 18. Arch Argent Pediatr, 111(4):e101–4.
12. Jamal A, Mousavi S, Alavi A (2012). Coincidence of trisomy 18 and robertsonian (13; 14). Iran J Public Health, 41(7):91–3.
2. Vergara-Mendez LD, Talero-Gutiérrez C, Velez-Van-Meerbeke A (2018). Double trisomy (XXX+21 karyotype) in a six-year-old girl with down phenotype. J Genet, 97(1):337–40.
3. Karaman A, Kabalar E (2008). Double aneuploidy in a Turkish child: Down-Klinefelter syndrome. Congenit Anom (Kyoto), 48(1):45–7.
4. Bozdogan S, Bisgin A (2017). A Rare Double Aneuploidy Case (Down–Klinefelter). J Pediatr Genet, 06(04):241–3.
5. Musarella MA, Verma RS (2001). An infant with Turner-Down aneuploidy and massive capillary hemangioma of the orbit: a case report with review. Ann Genet, 44(2):67–70.
6. Rodrigues MA, Morgade LF, Dias LFA et al (2017). Down-Klinefelter syndrome (48,XXY,+21) in a neonate associated with congenital heart disease. Genet Mol Res, 16(3) doi: 10.4238/gmr16039780
7. Manassero-Morales G, Alvarez-Manassero D, Merino-Luna A (2016). Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality. Case Rep Pediatr, 2016:1–3.
8. Kovaleva NV, Butomo IV, Verlinskaia DK et al (1999). Karyological characteristics of Down’s syndrome: clinical and theoretical aspects. Tsitologiia, 41(12):1014–21.
9. Ford CE, Jones KW, Miller OJ, et al (1959). The chromosomes in a patient showing both mongolism and the Klinefelter syndrome. Lancet, 1(7075):709–10.
10. Costa M, Ávila S (2017). Doble aneuploidía: síndromes de Klinefelter y Edwards (48,XXY,+18). Reporte de caso. Arch Argent Pediatr, 115(5):e282–6.
11. Pachajoa H (2013). Doble aneuploidía (trisomía X, trisomía 18) en una recién nacida con fenotipo de trisomía 18. Arch Argent Pediatr, 111(4):e101–4.
12. Jamal A, Mousavi S, Alavi A (2012). Coincidence of trisomy 18 and robertsonian (13; 14). Iran J Public Health, 41(7):91–3.
| Files | ||
| Issue | Vol 48 No 11 (2019) | |
| Section | Case Report(s) | |
| DOI | https://doi.org/10.18502/ijph.v48i11.3529 | |
| Keywords | ||
| Down syndrome Double aneuploidy Translocation | ||
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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
How to Cite
1.
GUMUS E. Two Rare Variants of Down Syndrome: Down-Turner Syndrome and Down Syndrome with Translocation (13;14): A Case Report. Iran J Public Health. 2019;48(11):2079-2082.
