Intrauterine phenotype features of fetuses with 7q11.23 microduplication syndrome.
Chromosomal microarray
Prenatal diagnosis
Sonographic features
dup7q11.23 syndrome
Journal
Orphanet journal of rare diseases
ISSN: 1750-1172
Titre abrégé: Orphanet J Rare Dis
Pays: England
ID NLM: 101266602
Informations de publication
Date de publication:
27 Sep 2023
27 Sep 2023
Historique:
received:
03
11
2022
accepted:
21
09
2023
medline:
20
11
2023
pubmed:
28
9
2023
entrez:
27
9
2023
Statut:
epublish
Résumé
To share our experience on prenatal diagnosis of 7q11.23 microduplication syndrome and to further delineate the fetal phenotypes of the syndrome. A retrospective study was conducted to evaluate seven cases of dup7q11.23 syndrome diagnosed prenatally by chromosomal microarray (CMA). Clinical data were reviewed, including maternal characteristics, indications for prenatal diagnosis, sonographic findings, CMA results, pregnancy outcomes and follow-ups. Seven cases, including 2 pairs of MCDA twins, were prenatally identified with dup7q11.23 syndrome. The most common prenatal sonographic features were ventriculomegaly, low-lying conus medullaris, and dilated ascending aorta. All 7 fetuses presented with typical 7q11.23 duplications (1.40-1.55 Mb). Parental chromosome analysis was performed in four pairs of parents, and indicated that the duplications of Case 6 and 7 were inherited from their asymptomatic mother. Our case series suggest that prenatal features of dup7q11.23 cases are diversified, with ventriculomegaly and low-lying conus medullaris being the most common intrauterine phenotypes. Additionally, cleft palate, dilated ascending aorta, and renal abnormalities were also observed, and should be taken into consideration in subsequent studies.
Identifiants
pubmed: 37759207
doi: 10.1186/s13023-023-02923-y
pii: 10.1186/s13023-023-02923-y
pmc: PMC10523695
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
305Subventions
Organisme : Guangzhou Basic and Applied Basic Research Funding Project
ID : Grant No. 202102020847
Organisme : Medical Science and Technology Research Project of Guangdong Province
ID : A2023500
Informations de copyright
© 2023. The Author(s).
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