Multimedialna platforma wiedzy medycznej Internetowa Księgarnia Medyczna Kalendarium Konferencji
Ginekologia Polska
MENU
Shortcuts Submit an article Author Guidelines Ahead Of Print Reviewers 2022

open access

Vol 85, No 7 (2014)
ARTICLES
View PDF Download PDF file
Get Citation

Prenatal diagnosis of craniosynostosis (compound Saethre-Chotzen syndrome phenotype) caused by a de novo complex chromosomal rearrangement (1; 4; 7) with a microdeletion of 7p21.3–7p15.3, including TWIST1 gene – a case report

Diana Massalska, Julia Bijok, Anna Kucińska-Chahwan, Aleksander Jamsheer, Joanna Bogdanowicz, Grzegorz Jakiel, Tomasz Roszkowski
DOI: 10.17772/gp/1768
·
Ginekol Pol 2014;85(7).

open access

Vol 85, No 7 (2014)
ARTICLES

Abstract

Craniosynostosis (a premature fusion of the cranial sutures) occurs with a frequency of 1 in 2100–2500 births and in over 40% cases is caused by known genetic factors – either single gene mutations or chromosomal rearrangements. Cases caused by complex chromosomal abnormalities are uncommon and likely associated with compound phenotype. Saethre–Chotzen syndrome (SCS) [#101400] is caused by TWIST1 gene haploinsufficiency. Its phenotype includes uni– or bicoronal synostosis, short stature, facial dysmorphism and variable anomalies of the hands and feet. Due to its poor sonographic manifestation a prenatal diagnosis of SCS is challenging. We report a case of a prenatally detected craniosynostosis (compound Saethre–Chotzen syndrome phenotype) caused by a de novo complex chromosomal rearrangement (1; 4; 7) with a microdeletion of 7p21.3–7p15.3, including TWIST1 gene.

Abstract

Craniosynostosis (a premature fusion of the cranial sutures) occurs with a frequency of 1 in 2100–2500 births and in over 40% cases is caused by known genetic factors – either single gene mutations or chromosomal rearrangements. Cases caused by complex chromosomal abnormalities are uncommon and likely associated with compound phenotype. Saethre–Chotzen syndrome (SCS) [#101400] is caused by TWIST1 gene haploinsufficiency. Its phenotype includes uni– or bicoronal synostosis, short stature, facial dysmorphism and variable anomalies of the hands and feet. Due to its poor sonographic manifestation a prenatal diagnosis of SCS is challenging. We report a case of a prenatally detected craniosynostosis (compound Saethre–Chotzen syndrome phenotype) caused by a de novo complex chromosomal rearrangement (1; 4; 7) with a microdeletion of 7p21.3–7p15.3, including TWIST1 gene.

Full Text:

View PDF Download PDF file
Get Citation

Keywords

craniosynostosis, twist1 gene, Saethre-Chotzen syndrome (SCS), Compound, complex chromosomal rearrangements, microdeletion, prenatal diagnosis

About this article
Title

Prenatal diagnosis of craniosynostosis (compound Saethre-Chotzen syndrome phenotype) caused by a de novo complex chromosomal rearrangement (1; 4; 7) with a microdeletion of 7p21.3–7p15.3, including TWIST1 gene – a case report

Journal

Ginekologia Polska

Issue

Vol 85, No 7 (2014)

Page views

727

Article views/downloads

856

DOI

10.17772/gp/1768

Bibliographic record

Ginekol Pol 2014;85(7).

Keywords

craniosynostosis
twist1 gene
Saethre-Chotzen syndrome (SCS)
Compound
complex chromosomal rearrangements
microdeletion
prenatal diagnosis

Authors

Diana Massalska
Julia Bijok
Anna Kucińska-Chahwan
Aleksander Jamsheer
Joanna Bogdanowicz
Grzegorz Jakiel
Tomasz Roszkowski

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 VM Media Group sp. z o.o., ul. Świętokrzyska 73, 80–180 Gdańsk
tel.:+48 58 320 94 94, faks:+48 58 320 94 60, e-mail:  viamedica@viamedica.pl