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Aberrant right subclavian artery leading to prenatal diagnosis of Koolen de Vries syndrome
, 1
Affiliations- 3rd Department of Obstetrics and Gynaecology, ATTIKON University Hospital Athens, Greece
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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.
Keywords
ARSA; 17q21.31 microdeletion; Koolen de Vries
About this articleTitle
Aberrant right subclavian artery leading to prenatal diagnosis of Koolen de Vries syndrome
Journal
Issue
Article type
Clinical vignette
Pages
597-598
Published online
2021-08-16
Page views
960
Article views/downloads
586
DOI
Pubmed
Bibliographic record
Ginekol Pol 2021;92(8):597-598.
Keywords
ARSA
17q21.31 microdeletion
Koolen de Vries
Authors
Christos Parthenis
Perikles Panagopoulos
References (5)- 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.
- 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.
- 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.
- 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.
- 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.
