Ann Genet Genet Disord | Volume 2, Issue 1 | Case Report | Open Access

Atypical Features in a Neonate with de novo 17p11.2p13.2 Duplication Syndrome - A Case Report

Shravan Kumar Katam¹, Gayatri Nerakh^2*, Tejopratap Oleti¹ and Sunil Pawar¹

¹Department of Neonatology, Fernandez Hospital, Hyderabad, Telangana, India
²Department of Fetal Medicine and Genetics, Fernandez Hospital, Hyderabad, Telangana, India

^*Correspondance to: Gayatri Nerakh 

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Abstract

17p duplication is a rare chromosomal abnormality which is either inherited from parents or can occur de novo. The clinical spectrum depends on the size and location of the duplication. The present case report is a case of neonate born to non consanguineous couple with antenatal findings of Fetal Growth Restriction (FGR), unilateral hydronephrosis. Postnatally the neonate had low birth weight, facial dysmorphism and unilateral hydronephrosis with additional findings of 11 pairs of ribs, excessive Mongolian spots, brachydactyly, preaxial polydactyly. Chromosomal microarray has revealed 17p11.2p13.2 duplication. As parental karyotype is normal, it is de novo duplication. This case highlights the rarity of the syndrome and presence of additional clinical features not reported previously in cases with 17p duplication syndrome.

Keywords:

Non allelic homologous recombination; Low-copy repeats; 17p duplication; Preaxial polydactyly; Mongolian spots

Citation:

Katam SK, Nerakh G, Oleti T, Pawar S. Atypical Features in a Neonate with de novo 17p11.2p13.2 Duplication Syndrome - A Case Report. Ann Genet Genet Disord. 2021;2(1):1006..