ArticleJournal of clinical laboratory analysis2020
X-linked ichthyosis: Molecular findings in four pedigrees with inconspicuous clinical manifestations.
Article in Journal of clinical laboratory analysis, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 17 citations in OpenAlex.
- Steroid Sulfatase Deficiency: Clinical Manifestations and Psychological Aspects in Light of Current Evidence.Clinical, cosmetic and investigational dermatology · 2026Review
- Review
- Xp22.31 copy number variations in 87 fetuses: refined genotype-phenotype correlations by prenatal and postnatal follow-up.BMC medical genomics · 2023Article
- Retrospective analysis of the sex chromosomal copy number variations in 186 fetuses using single nucleotide polymorphism arrays.Frontiers in genetics · 2022Article
- Maternal Xp22.31 copy-number variations detected in non-invasive prenatal screening effectively guide the prenatal diagnosis of X-linked ichthyosis.Frontiers in genetics · 2022Article
- Combined use of karyotyping and copy number variation sequencing technology in prenatal diagnosis.PeerJ · 2022Article
- X-linked ichthyosis: Molecular findings in four pedigrees with inconspicuous clinical manifestations.Journal of clinical laboratory analysis · 2020Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
backgroundX-linked ichthyosis (XLI) is the second most common type of ichthyosis, which is characterized by wide and symmetric distribution of adherent, dry, and polygonal scales on the skin. Steroid sulfatase (STS) gene, which is located at chromosome Xp22.31, has been identified as the pathogenic gene of XLI.
methodsIn this study, chromosome karyotype analysis, bacterial artificial chromosomes-on-Beads™ (BoBs) assay, fluorescence in situ hybridization (FISH), and single nucleotide polymorphism array (SNP-array) were employed for the prenatal diagnoses in three pregnant women with high-risk serological screening results and a pregnant woman with mental retardation.
resultsSTS deletion was identified at chromosome Xp22.31 in all four fetuses. Postnatal follow-up confirmed the diagnosis of ichthyosis in two male fetuses and revealed normal dermatological manifestations in other two female fetuses carrying ichthyosis.
conclusionThe results of the present study demonstrate that a combination of karyotypying, prenatal BoBs, FISH, and SNP-array may avoid the missed detection of common microdeletions and ensure the accuracy of the detection results, which provides a feasible tool for the reliable etiological diagnosis and better genetic counseling of XLI.
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