A clinical case of inverted duplication with terminal deletion of the short arm of chromosome 5

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Abstract

The 5p inverted duplication deletion syndrome, also known as inv dup del 5p, is a rare genetic disorder with a prevalence of below 1:1 000 000, whose underlying abnormality lies in a segmental trisomy and simultaneous segmental monosomy of the short arm of chromosome 5. The syndrome was first described by A. Kleczkowska et al. in 1987. According to the literature, large duplications of the chromosome 5 short arm are associated with pronounced phenotypic manifestations, delayed speech and mental development, as well as congenital cardiac, brain and musculoskeletal malformations. We present a description of a clinical case of extended inverted duplication with deletion of the chromosome 5 short arm in a girl with a mild phenotype and no visceral or musculoskeletal abnormalities; we also discuss the pathogenetic mechanisms of chromosomal rearrangement, and conduct a comparative analysis of phenotypic manifestations based on the available literature. Comprehensive molecular cytogenetic assessments have demonstrated that the duplicated site has a length of 29 Mb (5p13.3p15.33), and the deleted site of the subtelomeric region distal to 5p15.33 has a length of 110 kb.

About the authors

O. A. Solovova

Moscow Regional Research and Clinical Institute (MONIKI)

Email: olga_pilyaeva@list.ru
ORCID iD: 0000-0002-1389-4731

Olga А. Solovova – Geneticist, Consultative Department, Center for Medical Genetics

61/2 Shchepkina ul., Moscow, 129110

Россия

N. V. Oparina

Moscow Regional Research and Clinical Institute (MONIKI)

Email: nv_oparina@mail.ru
ORCID iD: 0000-0001-8662-4794

Natalia V. Oparina – Laboratory Geneticist, Medical and Genetical Laboratory, Center for Medical Genetics

61/2 Shchepkina ul., Moscow, 129110

Россия

Yu. Yu. Kotalevskaya

Moscow Regional Research and Clinical Institute (MONIKI)

Author for correspondence.
Email: kotalevskaya@mail.ru
ORCID iD: 0000-0001-8405-8223

Yulia Yu. Kotalevskaya – MD, PhD, Geneticist, Head of the Consultative Department, Center for Medical Genetics

61/2–8 Shchepkina ul., Moscow, 129110

Tel.: +7 (495) 631 72 00

Россия

S. G. Kalinenkova

Moscow Regional Research and Clinical Institute (MONIKI)

Email: s.kalinenkova@monikiweb.ru

Svetlana G. Kalinenkova – MD, PhD, Laboratory Geneticist, Head of Medical and Genetical Laboratory, Center for Medical Genetics

61/2 Shchepkina ul., Moscow, 129110

Россия

A. Sh. Latypov

Moscow Regional Research and Clinical Institute (MONIKI)

Email: a.latypov@monikiweb.ru

Artur Sh. Latypov – MD, PhD, Head of Center for Medical Genetics

61/2 Shchepkina ul., Moscow, 129110

Россия

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Copyright (c) 2020 Solovova O.A., Oparina N.V., Kotalevskaya Y.Y., Kalinenkova S.G., Latypov A.S.

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