Title: Partial Trisomy 18 in a Newborn Born to Retro Positive Parents- A Case Report

Authors: Dr Rohit Kapoor, Dr Souvik Guha, Dr Garima Biyani, Dr Hriday De, Dr Syed Md Azad

 DOI:  https://dx.doi.org/10.18535/jmscr/v4i12.82

Abstract

The patient was a dysmorphic newborn born to retropositive parents while the mother was on ART and needed resuscitation after birth. The child was lethargic since birth and had respiratory distress. Investigations revealed multiple congenital anomalies. A karyotyping was done which revealed a translocation between the long arm of chromosomes 18 and 22 with partial trisomy of chromosome 18.

References

1.      Crider KS, Olney RS, Cragan JD: Trisomies 13 and 18: population prevalences, characteristics, and prenatal diagnosis, metropolitan Atlanta, 1994-2003. Am J Med Genet. 2008, 146A: 820-826. 10.1002/ajmg.a.32200.

2.      Edwards JH, Harnden DG, Cameron AH, Crosse VM, Wolff OH: A new trisomic syndrome. Lancet. 1960, 1: 787-789.

3.      Smith DW, Patau K, Therman E, Inhorn SL: A new autosomal trisomy syndrome: multiple congenital anomalies caused by an extra chromosome. J Pediatr. 1960, 57: 338-345. 10.1016/S0022-3476(60)80241-7.

4.      Embleton ND, Wyllie JP, Wright MJ, Burn J, Hunter S: Natural history of trisomy 18. Arch Dis Child. 1996, 75: 38-41.

5.      Carey JC: Trisomy 18 and trisomy 13 syndromes. Management of genetic syndromes 3rd edition. Edited by: Cassidy SB, Allanson JE. John Wiley & Sons, New York; 2010:807-823.

6.      Weber WW: Survival and the sex ratio in trisomy 17-18. Am J Hum Genet. 1967, 19: 369-377.

7. Root S, Carey JC: Survival in trisomy 18. Am J Med Genet. 1994, 49: 170-174. 10.1002/ajmg.1320490203.

Corresponding Author

Dr Rohit Kapoor

ICH, Kolkata INDIA