Edward’s syndrome with a novel karyotype

Authors

  • S Patra Departments of Pediatrics, Lady Hardinge Medical College and Kalawati Saran Children?s Hospital, New Delhi
  • A Garg Departments of Pediatrics, Lady Hardinge Medical College and Kalawati Saran Children?s Hospital, New Delhi
  • S Krishnamurthy Departments of Pediatrics, Lady Hardinge Medical College and Kalawati Saran Children?s Hospital, New Delhi
  • S Aneja Departments of Pediatrics, Lady Hardinge Medical College and Kalawati Saran Children?s Hospital, New Delhi

DOI:

https://doi.org/10.3329/bjms.v10i3.8368

Keywords:

Edward’s syndrome, karyotype, neonate.

Abstract

Edward’s syndrome was first described as a clinical entity in 1960 as a disorder of trisomy 18 (47 XX/XY; + 18) in babies with particular pattern of malformations. The Karyotype found in our case was (47 XX + 18 add (22) (p13) which has not been published so far in the literature. The less common findings noted in the baby were rocker bottom feet, syndactyly of 2nd and 3rd toes, microcephaly and corneal opacities. Though we didn’t find any significant association between phenotypic ranges with genotypic variation in literature, but further research is needed for it. We are reporting this case as the genotype is found to be novel.

Keywords: Edward’s syndrome, karyotype, neonate.

DOI: http://dx.doi.org/10.3329/bjms.v10i3.8368

BJMS 2011; 10(3): 211-212

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How to Cite

Patra, S., Garg, A., Krishnamurthy, S., & Aneja, S. (2011). Edward’s syndrome with a novel karyotype. Bangladesh Journal of Medical Science, 10(3), 211–212. https://doi.org/10.3329/bjms.v10i3.8368

Issue

Vol. 10 No. 3 (2011)

Section

Case Reports

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