Unmasking a recessive allele by a deletion: Early prenatal diagnosis of Bardet-Biedl syndrome in a Chinese family

MeSH terms

• Alleles*
• Bardet-Biedl Syndrome / diagnosis*
• Bardet-Biedl Syndrome / genetics*
• China
• Comparative Genomic Hybridization
• DNA Mutational Analysis
• Female
• Genes, Recessive*
• Genetic Testing
• Humans
• Phenotype
• Pregnancy
• Prenatal Diagnosis
• Sequence Deletion*
• Ultrasonography, Prenatal