biostudies-literatureLiu JNational Natural Science Foundation of Chinae1750https://www.ebi.ac.uk/biostudies/studies/S-EPMC8404223biostudies-literatureUnknown9(8)<h4>Background</h4>Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is a rare X-linked recessive disorder characterized by pre- and postnatal overgrowth and a broad spectrum of anomalies including craniofacial dysmorphism, heart defects, renal, and genital anomalies. Due to the ultrasound findings are not pathognomonic for this syndrome, most clinical diagnosis of SGBS1 are made postnatally.<h4>Methods</h4>A pregnant woman with abnormal prenatal sonographic findings was advised to perform molecular diagnosis. Single nucleotide polymorphism array (SNP array) was performed in the fetus, and the result was validated with multiplex ligation-dependent probe amplification (MLPA) and real-time quantitative PCR (qPCR).<h4>Results</h4>The prenatal sonographic presented with increased nuchal translucenMolecular genetics & genomic medicinePrenatal case of Simpson-Golabi-Behmel syndrome with a de novo 370Kb-sized microdeletion of Xq26.2 compassing partial GPC3 gene and review.PMC840422381970829Peng YLiu JMa NLiu QWang HJiang MXi HLi ZYu WPang JLuo YTeng YYang SJia ZfalsePrenatal case of Simpson-Golabi-Behmel syndrome with a de novo 370Kb-sized microdeletion of Xq26.2 compassing partial GPC3 gene and review.<h4>Background</h4>Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is a rare X-linked recessive disorder characterized by pre- and postnatal overgrowth and a broad spectrum of anomalies including craniofacial dysmorphism, heart defects, renal, and genital anomalies. Due to the ultrasound findings are not pathognomonic for this syndrome, most clinical diagnosis of SGBS1 are made postnatally.<h4>Methods</h4>A pregnant woman with abnormal prenatal sonographic findings was advised to perform molecular diagnosis. Single nucleotide polymorphism array (SNP array) was performed in the fetus, and the result was validated with multiplex ligation-dependent probe amplification (MLPA) and real-time quantitative PCR (qPCR).<h4>Results</h4>The prenatal sonographic presented with increased nuchal translucen2021-01-01T00:00:00Z2021 Aug2026-05-08T19:07:57.225Z2022-02-11T10:15:03.019ZS-EPMC84042233429383110.1002/mgg3.1750