Combined chromosomal microarray analysis and fluorescence in situ hybridization for prenatal diagnosis of two cases with Pallister-Killian syndrome / 中华医学遗传学杂志

OBJECTIVE@#To carry out prenatal diagnosis for two cases of Pallister-Killian syndrome (PKS) using combined chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH).@*METHODS@#Umbilical cord blood was sampled from the two fetuses and subjected to G-banding chromosomal karyotyping, CMA and FISH assay.@*RESULTS@#Chromosomal karyotyping showed that the two fetuses were mos 47,XX,+i(12)(p10)[3]/46,XX[197] and mos 47,XY,+i(12)(p10)[5]/46,XY[95], respectively. CMA showed that both had carried duplication of 12p. The results of interphase FISH confirmed mosaicism of 12p tetrasomy. Combined with ultrasonographic findings, both fetuses were diagnosed as PKS.@*CONCLUSION@#Prenatal ultrasound examination, karyotype analysis of umbilical cord blood, G-banded chromosomal analysis, CMA and FISH may be used in conjunct for the prenatal diagnosis of PKS.

Detection of Serum Folate and Vitamin B1 2 in the Role of Gigantic Young Cell Anemia Diagnosis and Treatment / 现代检验医学杂志

Objective To explore the serum folic acid (FOL)and vitamin B12 (Vit B12)levels in gigantic young cell anemia (MA)in the diagnosis and treatment effect.Methods Select in March 2010 to March 2013,examined with clear cell mor-phology in the diagnosis of 50 patients with gigantic young cell anemia as observation group.Another selection during the same period to hospital for a medical 52 cases of healthy people as control group,observation group treated with FOL and Vit B1 2 8~1 5 d,with SIEMENS SIEMENS ADVIA Centaur CP automatic chemiluminescence immune analyzer to observe group before and after treatment and the control group was used to detect the serum FOL and Vit B1 2 levels,respectively, for all the test results were analyzed.Results Observation group before treatment serum FOL and Vit B12 levels (2.23± 0.11 ng/ml and 125.21±94.14 pg/ml)significantly lower than the control group (5.49± 3.91 ng/ml and 356.70±185.46 pg/ml),differences were statistically significant (t=5.89,P0.05;t=1.51,P>0.05).Conclusion The detection of serum FOL and Vit B12 levels,can be used as a gigantic young cell anemia is the effective means to the diagnosis and treatment effect monitoring.