Objective To identify the clinical phenotype and genetic analysis of a fetus with Simpson-Golabi-Behmel syndrome(SGBS)type 1 during pregnancy,analyze the relationship between the genetic etiology and the clinical phenotype during pregnancy by phenotype and gene analysis,and provide reference for diagnosis.Methods Fetus amniotic fluid and peripheral blood samples of its parents were collected.The fetus was subjected to chromosomal karyotyping,whilst the fetus and its parents were subjected to whole exon sequence.The candidate copy number variation and single nucleotide polymor-phism were analyzed.Results WES indicated that it has carried a novel 122 kb deletion at Xq26.2,which is associated with hereditary Glypican 4(GPC4 OMIM #300168)and Glypican 3(GPC3 OMIM #300037),in which the GPC3 gene may be associated with X-linked SGBS1.Parental relationship was confirmed between the fetus and its parents.Following genetic counseling,the parents has chosen to terminate the pregnancy.By analyzing the comprehensive gestational weeks of ultra-sound detection during pregnancy,it was found that the intrauterine growth transition of this child could not be detected until 24 weeks,and the gap between the gestational age of ultrasound and the actual gestational age gradually increased in the sub-sequent growth and development.Conclusion WES and qPCR can effectively detect Xq26.2 de novo microdeletion.The clinical manifestations of this syndrome mainly include facial abnormalities,abnormal enlargement of internal organs and the measured gestational age in the second and third trimesters of pregnancy exceeds the actual gestational age,and the gap con-tinues to increase.Upon prenatal consultation,the prognosis of the fetus should be fully informed,and advice should be pro-vided in combination with the preference of the couple,pregnancy history,family condition and other aspects.
Xq26.2 microdeletion syndromeGPC3 geneGPC4 geneprenatal ultrasoundSimpson-Golabi-Behmel syndrome type 1
NETL
NSTL
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