Phenotypic and genetic analysis of a child featuring multiple malformations due to chromosome 18p deletion / 中华医学遗传学杂志

OBJECTIVE To analyze a neonate with multiple malformations and to correlate its genotype with phenotype. METHODS The karotypes of the child and her parents were subjected to G-banding chromosome analysis, and array comparative genomic hybridization (array-CGH) was used for fine mapping of the aberrant region. RESULTS The karyotype of the child was ascertained as 46,XX,del(18)(p11.2). Array CGH has identified a 9.8 Mb deletion at 18p11.32-p11.22. The patient has presented features such as holoprosencephaly, choanal atresia, heart defect, and craniofacial dysmorphisms. CONCLUSION The de novo 18p deletion probably underlies the main clinical manifestations of the child.

Evaluation of multiphasic helical CT scan in diagnosis hilar cholangiocarcinoma / 医学研究生学报

0.05), whereas the mean difference on the portal vein contrast enhanced phase was statistically greater than that on the hepatic artery contrast enhanced phase or delayed phase ( P