资讯

Deletions in chromosome 17q12 encompassing the HNF1β gene ... para 1 woman with no significant medical history. A prenatal ultrasound revealed the presence of multicystic dysplastic kidneys.
In summary, the analysis revealed microdeletions and duplications in a series of fetal samples with congenital anomalies other than mental retardation. The 17q12 deletion is the first genomic disorder ...