open access

Vol 92, No 8 (2021)
Clinical vignette
Published online: 2021-08-16
Get Citation

Aberrant right subclavian artery leading to prenatal diagnosis of Koolen de Vries syndrome

Christos Parthenis1, Perikles Panagopoulos1
DOI: 10.5603/GP.a2021.0157
·
Pubmed: 34541634
·
Ginekol Pol 2021;92(8):597-598.
Affiliations
  1. 3rd Department of Obstetrics and Gynaecology, ATTIKON University Hospital Athens, Greece

open access

Vol 92, No 8 (2021)
CLINICAL VIGNETTES
Published online: 2021-08-16

Abstract

Koolen de Vries syndrome is a rare genetic disorder with an estimated prevalence 1:16000 in the general population but it is considered to be an underdiagnosed syndrome. We report a 17q21.31 microdeletion which was diagnosed prenatally in a fetus with aberrant right subclavian artery (ARSA). Koolen de Vries syndrome is a rare chromosomal abnormality and according to the literature this is the first case in which the detection of ARSA led to this syndrome.

Abstract

Koolen de Vries syndrome is a rare genetic disorder with an estimated prevalence 1:16000 in the general population but it is considered to be an underdiagnosed syndrome. We report a 17q21.31 microdeletion which was diagnosed prenatally in a fetus with aberrant right subclavian artery (ARSA). Koolen de Vries syndrome is a rare chromosomal abnormality and according to the literature this is the first case in which the detection of ARSA led to this syndrome.

Get Citation

Keywords

ARSA; 17q21.31 microdeletion; Koolen de Vries

About this article
Title

Aberrant right subclavian artery leading to prenatal diagnosis of Koolen de Vries syndrome

Journal

Ginekologia Polska

Issue

Vol 92, No 8 (2021)

Article type

Clinical vignette

Pages

597-598

Published online

2021-08-16

DOI

10.5603/GP.a2021.0157

Pubmed

34541634

Bibliographic record

Ginekol Pol 2021;92(8):597-598.

Keywords

ARSA
17q21.31 microdeletion
Koolen de Vries

Authors

Christos Parthenis
Perikles Panagopoulos

References (5)
  1. Shaw-Smith C, Pittman AM, Willatt L, et al. Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Nat Genet. 2006; 38(9): 1032–1037.
  2. Koolen DA, Sharp AJ, Hurst JA, et al. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J Med Genet. 2008; 45(11): 710–720.
  3. Koolen DA, Pfundt R, Linda K, et al. DDD Study. The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. Eur J Hum Genet. 2016; 24(5): 652–659.
  4. Dias J, Van Nguyen N, Georgiev P, et al. Structural analysis of the KANSL1/WDR5/KANSL2 complex reveals that WDR5 is required for efficient assembly and chromatin targeting of the NSL complex. Genes Dev. 2014; 28(9): 929–942.
  5. Agathokleous M, Chaveeva P, Poon LCY, et al. Meta-analysis of second-trimester markers for trisomy 21. Ultrasound Obstet Gynecol. 2013; 41(3): 247–261.

Regulations

Important: This website uses cookies. More >>

The cookies allow us to identify your computer and find out details about your last visit. They remembering whether you've visited the site before, so that you remain logged in - or to help us work out how many new website visitors we get each month. Most internet browsers accept cookies automatically, but you can change the settings of your browser to erase cookies or prevent automatic acceptance if you prefer.

By "Via Medica sp. z o.o." sp.k., ul. Świętokrzyska 73, 80–180 Gdańsk
tel.:+48 58 320 94 94, faks:+48 58 320 94 60, e-mail:  viamedica@viamedica.pl