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Case Reports
. 2017 Nov 4:2017:bcr2017219311.
doi: 10.1136/bcr-2017-219311.

The effects of microduplication 1q21.1 and in-utero isotretinoin exposure

Sarah Kirsten Taylor  1 , Remy Toko  2
Affiliations
Case Reports

The effects of microduplication 1q21.1 and in-utero isotretinoin exposure

Sarah Kirsten Taylor et al. BMJ Case Rep. .

Abstract

The impact of in-utero isotretinoin exposure has been widely reported, with many affected pregnancies failing to reach term.1 2 Due to the low numbers of in-utero isotretinoin exposed pregnancies, the interactions between this drug and rare genetic defects such as microduplication 1q21.1 are unclear, particularly how they might manifest phenotypically. We present this case of in-utero isotretinoin exposure occurring in a child with microduplication 1q21.1. The child was born with congenital abnormalities which did not fit into a single syndrome. Regrettably in-utero exposure to isotretinoin continues to occur. We hope this case will trigger further discussion on the dangers of dispensing Isotretinoin without ensuring stringent pregnancy testing and its potential interaction with genetic abnormalities, in particular with microduplication 1q21.1.

Keywords: Contraindications And Precautions; Drugs: Obstetrics And Gynaecology; Paediatrics.

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Conflict of interest statement

Competing interests: None declared.

References

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    1. Dolan S. Isotretinoin and Pregnancy - A Continued Risk for Birth Defects: Medscape, 2016. http://www.medscape.com/viewarticle/492119 (accessed 21 Nov 2016).
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    1. Genetics Home Reference. 1q21.1 microduplication: U.S. National Library of Medicine, 2014. https://ghr.nlm.nih.gov/condition/1q211-microduplication# (accessed 21 Nov 2016).
    1. Archana J, Bhargavi VC. Retinoids-an overview of clinical applications in dermatology. Int J Pharm Sci Res 2010;2:376–83.

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