Abstract
Aim: A -37 days male infant with Down syndrome exhibited an autosomal translocation t(1;17) in addition to trisomy 21. Case:A 37 days male infant with Down syndrome was referred to Dicle University, Medical Faculty, Department of Medical Biology for karyotype analysis. On detailed clinical examination of the case was performed in the department of pediatry. Cytogenetic analysis was performed by standart peripheral blood culture and GTG method by using phytohemagglutinin-stimulated lymphocyte.The chromosomal constitution of the patient was found to be 47, XX, t(1;17), +21.His parents showed a normal chromosome complement. The translocation must have been an apparently “balanced” one as the proband presented with typical features of Down syndrome alone.Conclusion: Prenatal diagnosis should be offered even if there is no other important finding in the advanced maternal age, on prenatal consultation
References
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Abstract
References
- Nussbaum RL (2001). Thompson and Thompson Genetics in Medicine. Six ed., WB.Saunders Company,172-175.
- Chang YW, Wang PH, Li WH, Chen LC, Chang CM, Sung PL, Yang MJ, Cheng LY, Lai YL, Cheng YY, Yeh CC, Chang WH, Wang SY, Chen SR, Yen MS, Chao KC (2013). Balanced and unbalanced reciprocal translocation: An overview of a 30-year experience in a single tertiary medical center in Taiwan. Journal of the Chinese Medical Association, 76: 153-157
- García-Delgado C, Bahena-Martínez E, Aparicio-Onofre AGuevara-Yañez R,Cervantes-Peredo A, Azotla-Vilchis OC, Estrada-Mena J, Luna-Angulo A,Villa-Morales J, Moran-Barroso VF (2010). A familial reciprocal translocation t(1;15) in three generations identified in a regular trisomy 21 patient. Genet Couns, 21(3): 299-306.
- Tunca Y, Deveci MS, Koc A, Kaya H, Alanbay I, Coksuer H, Dede M (2013). Prenatal diagnosis of an autosomal translocation with regular trisomy 21. Fetal Pediatr Pathol. Jun; 32(3):210-212
- Cyrus C, Kaur H, Koshy T, Thankanadar J, Nallathambi C (2007). A de novo reciprocal t(2;18) translocation with regular trisomy 21. Genet Test,11(4): 459-462.
- Hou JW and Wang TR (1994). Cytogenetic investigations in trisomy 21 with reciprocal 4/9 translocation: report of a case. J Formos Med Assoc, 93(11-12): 958-960
Details
| Other ID | JA34ZF42ED |
|---|---|
| Authors | |
| Publication Date | December 1, 2012 |
| IZ | https://izlik.org/JA42KR58ZH |
| Published in Issue | Year 2012 Volume: 4 Issue: 2 |
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