Baller-Gerold syndrome

Identification of novel compound heterozygous RECQL4 mutations and prenatal diagnosis of Baller-Gerold syndrome: a case report

D. H. Cao, Mu, K., Liu, D. N., Sun, J. L., Bai, X. Z., Zhang, N., Qiu, G. B., and Ma, X. W., Identification of novel compound heterozygous RECQL4 mutations and prenatal diagnosis of Baller-Gerold syndrome: a case report, vol. 14. pp. 4757-4766, 2015.

Birth defects are structural and/or functional malforma­tions present at birth that cause physical or mental disability and are im­portant public health problems. Our study was aimed at genetic analysis and prenatal diagnosis of congenital anomalies to understand the cause of certain birth defects. Karyotypes and array-comparative genomic hy­bridization (aCGH) were performed on a pregnant woman, surrounding amniotic fluid, and her husband. A short-stature panel genetic test was conducted in accordance with the phenotype of the fetus.

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