پنجشنبه 6 اردیبهشت 1403
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دوره 5، شماره 3 - ( 4-1386 )
جلد 5 شماره 3 صفحات 0-73 |
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Eslami Z, Sheikhha M H, Kalantar S M, Seyedhasani S M. t (3; 22)(q21;q12) in a pregnant woman with two abortions and postnatal death of one offspring. IJRM 2007; 5 (3) :73-0
URL: http://ijrm.ir/article-1-66-fa.html
URL: http://ijrm.ir/article-1-66-fa.html
t (3; 22)(q21;q12) in a pregnant woman with two abortions and postnatal death of one offspring. International Journal of Reproductive BioMedicine. 1386; 5 (3) :73-0
چکیده: (2660 مشاهده)
Background: Carriers of translocations may have an increased risk of an unbalanced progeny due to imbalances and delays in meiosis.
Case: A 24-year-old pregnant Iranian female was referred to the Genetic Department of Yazd Clinical and Research Centre for Infertility because of her pregnancy history. She had three previous pregnancies, two of which ended in abortion. The one live born infant was a girl who had multiple abnormalities and died when she was 11 days old. The cytogenetic analysis showed that the woman is a carrier of chromosomal translocation 46, XX, t (3; 22) (q21; q12), while her husband’s karyotype was found to be normal. The karyotype of her mother showed the same translocation. The risk of further miscarriages was high, and the proband was monitored closely during her pregnancy. After nine months of pregnancy, a normal baby girl weighted 3460 gr was delivered by Caesarean section. Three hours after birth, the baby suffered from jaundice and respiratory distress. The baby’s phenotype was normal. She received routine treatment successfully and after 15 days she was discharged from the hospital in a good condition. The baby’s karyotype showed the same translocation as her mother and grandmother.
Conclusion: To our knowledge, no translocation with such breakpoints t (3; 22) (q21; q12) has been described previously in the women with RPL.
Case: A 24-year-old pregnant Iranian female was referred to the Genetic Department of Yazd Clinical and Research Centre for Infertility because of her pregnancy history. She had three previous pregnancies, two of which ended in abortion. The one live born infant was a girl who had multiple abnormalities and died when she was 11 days old. The cytogenetic analysis showed that the woman is a carrier of chromosomal translocation 46, XX, t (3; 22) (q21; q12), while her husband’s karyotype was found to be normal. The karyotype of her mother showed the same translocation. The risk of further miscarriages was high, and the proband was monitored closely during her pregnancy. After nine months of pregnancy, a normal baby girl weighted 3460 gr was delivered by Caesarean section. Three hours after birth, the baby suffered from jaundice and respiratory distress. The baby’s phenotype was normal. She received routine treatment successfully and after 15 days she was discharged from the hospital in a good condition. The baby’s karyotype showed the same translocation as her mother and grandmother.
Conclusion: To our knowledge, no translocation with such breakpoints t (3; 22) (q21; q12) has been described previously in the women with RPL.
نوع مطالعه: Original Article |
فهرست منابع
1. Zarina AL, Jamil MA, Ng SP, Rohana J, Yong SC, Salwati S, Boo NY. Unbalanced chromosomal translocation: a cause of recurrent spontaneous abortion. Med J Malaysia 2006; 61:260-262.
2. Gardner RJM, Sultherland GR. Chromosome abnormalities and genetic counselling. 3rd ed. 2004; Oxford University Press, UK.
3. Daniely M, Aviram-Goldring A, Barkai G, Goldman B. Detection of a chromosomal aberration in fetuses arising from recurrent spontaneous abortion by comparative genomic hybridization. Hum Reprod 1998; 13: 805-809. [DOI:10.1093/humrep/13.4.805]
4. Stephenson MD, Sierra S. Reproductive outcomes in recurrent pregnancy loss associated with a parental carrier of a structural chromosome rearrangement. Hum Reprod 2006; 21:1076-1082 [DOI:10.1093/humrep/dei417]
5. Seabright, M. A rapid banding technique for human chromosomes. Lancet. 1971; 2: 971-972 [DOI:10.1016/S0140-6736(71)90287-X]
6. Rimoin D, Connor M, Korf B, Emery A. Emery and Rimoin's Principles and Practice of Medical Genetics. 4th ed. 2001; Churchill Livingstone, UK.
7. Joseph AM, Thomas IM. Paternal translocation (1;7) associated with reproductive failure (a case report). J Postgrad Med 1987; 33: 143-145.
8. Rivera H, Garcia-Esquivel L, Romo MG, Perez-Garcia G, Martinez Y Martinez R. The 22q distal trisomy syndrome in a recombinant child. Ann Genet. 1988; 31: 47-49.
9. Stoll C, Medeiros P, Pecheur H, Schnebelen A. De novo trisomy 22 due to an extra 22Q-chromosome. Ann Genet 1997; 40: 217-221.
10. Barajas-Barajas LO, Valdez LL, Gonzalez JR, Garcia-Garcia C, Rivera H, Ramirez L. Sensorineural deafness in two infants: a novel feature in the 22q distal duplication syndrome. Cardinal signs in trisomies 22 subtypes. Genet Couns 2004; 15: 167-173.
11. Schroder K, Schuffenhauer S, Seidel H, Bartsch O, Blin N, Hinkel GK, Schmitt H. Deletion mapping by FISH with BACs in patients with partial monosomy 22q13. Hum Genet 1998; 102: 557-561. [DOI:10.1007/s004390050739]
12. Belin V, Farhat M, Monset-Couchard M. Intracytoplasmic sperm injection pregnancy with trisomy 20p and monosomy 22q in a newborn resulting from a balanced paternal translocation. Biol Neonate 1999; 75: 398-401. [DOI:10.1159/000014121]
13. Offit K, Jhanwar S, Ebrahim SA, Filippa D, Clarkson BD, Chaganti RS. t(3;22)(q27;q11): a novel translocation associated with diffuse non-Hodgkin's lymphoma. Blood 1989; 74:1876-1879.
14. Moid F, Day E, Schneider MA, Goldstein K, DePalma L. An indolent case of T-prolymphocytic leukemia with t(3;22)(q21;q11.2) and elevated serum beta2-microglobulin. Arch Pathol Lab Med 2005; 129:1164-1167.
15. Sugiura-Ogasawara M, Suzumori K. Can preimplantation genetic diagnosis improve success rates in recurrent aborters with translocations? Hum Reprod 2005; 20:3267-3270. [DOI:10.1093/humrep/dei259]
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