Jianzhu Wu
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View article: Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family
Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family Open
Familial Rubinstein-Taybi syndrome (RSTS) with recurrent RSTS siblings and apparently unaffected parents is rare; such cases might result from parental somatic and/or germline mosaicism. Parental low-level (<10%) germline mosaicism in t…
View article: Cover Image, Volume 38, Issue 6
Cover Image, Volume 38, Issue 6 Open
Single nucleotide polymorphism array and TBX6 sequencing results in a fetus with a recurrent 16p11.2 microdeletion. Figure modified from Lin et al., in this issue. https://doi.org/10.1002/pd.5245.
View article: Chromosome 10q26 deletion syndrome: Two new cases and a review of the literature
Chromosome 10q26 deletion syndrome: Two new cases and a review of the literature Open
The current study presents the cases of two unrelated patients with similar clinical features, including craniofacial anomalies, developmental delay/intellectual disability and cardiac malformations, that are consistent with chromosome 10q…
View article: Single nucleotide polymorphism-based microarray analysis for the diagnosis of hydatidiform moles
Single nucleotide polymorphism-based microarray analysis for the diagnosis of hydatidiform moles Open
In clinical diagnostics, single nucleotide polymorphism (SNP)-based microarray analysis enables the detection of copy number variations (CNVs), as well as copy number neutral regions, that are absent of heterozygosity throughout the genome…
View article: Smith‑Magenis syndrome in monozygotic twin fetuses presenting with discordant phenotypes and uteroplacental insufficiency
Smith‑Magenis syndrome in monozygotic twin fetuses presenting with discordant phenotypes and uteroplacental insufficiency Open
Smith‑Magenis syndrome (SMS) is a rare condition with multiple congenital malformations caused by the haploinsufficiency of RAI1 (deletion or mutation of RAI1). However, the correlation between genotype and phenotype is not well understood…