Author: Duan, Fuhua; Kong, Xiangdong
Title: [Prenatal diagnosis and genetic analysis of a fetus with Miller-Dieker syndrome]. Cord-id: 5tij1y8x Document date: 2021_1_10
ID: 5tij1y8x
Snippet: OBJECTIVE To explore the genetic basis for a fetus with lissencephaly. METHODS Genomic DNA was extracted from amniotic fluid sample and subjected to copy number variation (CNV) analysis. RESULTS The fetus was found to harbor a heterozygous 5.2 Mb deletion at 17p13.3p13.2, which encompassed the whole critical region of Miller-Dieker syndrome (MDS) (chr17: 1-2 588 909). CONCLUSION The fetus was diagnosed with MDS. Deletion of the PAFAH1B1 gene may account for the lissencephaly found in the fetus.
Document: OBJECTIVE To explore the genetic basis for a fetus with lissencephaly. METHODS Genomic DNA was extracted from amniotic fluid sample and subjected to copy number variation (CNV) analysis. RESULTS The fetus was found to harbor a heterozygous 5.2 Mb deletion at 17p13.3p13.2, which encompassed the whole critical region of Miller-Dieker syndrome (MDS) (chr17: 1-2 588 909). CONCLUSION The fetus was diagnosed with MDS. Deletion of the PAFAH1B1 gene may account for the lissencephaly found in the fetus.
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