Abstract
Smith-Magenis syndrome and Potocki-Lupski syndrome are rare autosomal dominant diseases. Although clinical phenotypes of adults and children have been reported, fetal ultrasonic phenotypes are rarely reported. A retrospective analysis of 6,200 pregnant women who received invasive prenatal diagnosis at Fujian Provincial Maternal and Child Health Hospital between October 2016 and January 2021 was performed. Amniotic fluid or umbilical cord blood was extracted for karyotyping and single nucleotide polymorphism array analysis. Single nucleotide polymorphism array analysis revealed six fetuses with copy number variant changes in the 17p11.2 region. Among them, one had a copy number variant microdeletion in the 17p11.2 region, which was pathogenically analyzed and diagnosed as Smith-Magenis syndrome. Five fetuses had copy number variant microduplications in the 17p11.2 region, which were pathogenically analyzed and diagnosed as Potocki-Lupski syndrome. The prenatal ultrasound phenotypes of the six fetuses were varied. The parents of two fetuses with Potocki-Lupski syndrome refused verification. Smith-Magenis syndrome in one fetus and Potocki-Lupski in another were confirmed as de novo. Potocki-Lupski syndrome in two fetuses was confirmed to be from maternal inheritance. The prenatal ultrasound phenotypes of Smith-Magenis syndrome and Potocki-Lupski syndrome in fetuses vary; single nucleotide polymorphism array analysis is a powerful diagnostic tool for these diseases. The ultrasonic phenotypes of these cases may enrich the clinical database.
Highlights
The gene density of chromosome 17 is the second-highest in the human genome, and it contains a large number of chromosome deletion and duplication pathogenic regions (Zody et al, 2006; Goldenberg, 2018)
Under the guidance of ultrasound, 25–30 ml of amniotic fluid was extracted from pregnant women with a gestational age of less than 28 weeks, of which 20 ml was used for chromosome karyotype analysis, and the remaining 5–10 ml was used for single nucleotide polymorphism array (SNP-array)
Both Smith-Magenis syndrome (SMS) and Potocki-Lupski syndrome (PTLS) are characterized by developmental delays, language disorders, and intellectual disability
Summary
The gene density of chromosome 17 is the second-highest in the human genome, and it contains a large number of chromosome deletion and duplication pathogenic regions (Zody et al, 2006; Goldenberg, 2018). It has several dose-sensitive genes, such as PMP22 (Gillentine et al, 2018), PAFAH1B1 (Chen et al, 2018), YWHAE (Mignon-Ravix et al, 2010), RAI1 (Loviglio et al, 2016), and NF1 (Margraf et al, 2019), which are involved in multiple genetic diseases (Shchelochkov et al, 2010). The main clinical manifestations in patients with PTLS include mild to moderate intellectual disability, short stature, inattention, autism, hyperactivity, triangular face, high zygomatic arch, frontal eminences, palatal dysplasia, and abnormal heart development (Twentyman, 2015)
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