Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2018
[Genetic analysis of 100 fetuses with cleft lip with or without palate].
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Hou Lei, Li Jieyan, Wang Xiaoxin, Zhang Tao, Li Li, Zhang Weiyuan, Wang Xin
Аннотация
OBJECTIVE: To explore the genetic basis for fetuses with cleft lip and palate.
METHODS: For 100 fetuses diagnosed with cleft lip with or without palate, G-banding chromosomal karyotyping and copy number variation sequencing (CNV-seq) were carried out on chorionic villi, amniotic fluid or cordocentesis samples.
RESULTS: No genomic abnormality was found among 49 fetuses with isolated cleft lip and palate, while 12 genomic aberrations were found among 51 fetuses with syndromic cleft lip and palate, which included 4 cases with trisomy 13, 2 cases with trisomy 18, 1 with X chromosome aneuploidy, 2 with other chromosomal aneuploidies and 3 with pathogenic CNVs.
CONCLUSION: The incidence of genomic abnormalities in fetuses with cleft lip and palate was high. In addition to chromosomal abnormalities, attention should also be paid to pathogenic CNVs.
METHODS: For 100 fetuses diagnosed with cleft lip with or without palate, G-banding chromosomal karyotyping and copy number variation sequencing (CNV-seq) were carried out on chorionic villi, amniotic fluid or cordocentesis samples.
RESULTS: No genomic abnormality was found among 49 fetuses with isolated cleft lip and palate, while 12 genomic aberrations were found among 51 fetuses with syndromic cleft lip and palate, which included 4 cases with trisomy 13, 2 cases with trisomy 18, 1 with X chromosome aneuploidy, 2 with other chromosomal aneuploidies and 3 with pathogenic CNVs.
CONCLUSION: The incidence of genomic abnormalities in fetuses with cleft lip and palate was high. In addition to chromosomal abnormalities, attention should also be paid to pathogenic CNVs.