ArticleInternational journal of clinical and experimental pathology2020
A fetus with Kabuki syndrome 2 detected by chromosomal microarray analysis.
Article in International journal of clinical and experimental pathology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 5 citations in OpenAlex.
- NovelWorld journal of clinical cases · 2021Article
- SNP Array as a Tool for Prenatal Diagnosis of Congenital Heart Disease Screened by Echocardiography: Implications for Precision Assessment of Fetal Prognosis.Risk management and healthcare policy · 2021Article
- Chromosomal Microarray Analysis for the Prenatal Diagnosis in Fetuses with Nasal Bone Hypoplasia: A Retrospective Cohort Study.Risk management and healthcare policy · 2021Article
- The difference between karyotype analysis and chromosome microarray for mosaicism of aneuploid chromosomes in prenatal diagnosis.Journal of clinical laboratory analysis · 2020Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundKabuki syndrome is a rare multiple congenital anomaly syndrome characterized by distinct facial features, intellectual disability, cardiovascular and musculoskeletal abnormalities, persistence of fetal fingertip pads, and postnatal growth deficiency. Currently, the diagnosis mainly depends on clinical manifestations and genetic testing. To date, there is no report on the identification Kabuki syndrome in fetuses using chromosomal microarray analysis (CMA). CASE PRESENTATION: A fetus was identified with growth retardation and cardiovascular abnormality on color Doppler ultrasonography; however, non-invasive prenatal testing (NIPT) revealed a low risk and G-banding karyotyping revealed no abnormal karyotype detected. CMA identified a 1.3 Mb deletion on the X chromosome (Xp11.3) containing
conclusionsWe report a fetus with Kabuki syndrome 2 detected using CMA. It is strongly recommended that CMA be included in prenatal diagnosis in fetuses with growth retardation, cardiovascular and musculoskeletal abnormalities revealed by routine Color Doppler ultrasonography.
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32211113PMC7061791W3015981310What OpenQuestion holds
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