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,P<0.01;t=7.90,P<0.01).Observation group after treatment serum FOL and Vit B12 levels (4.26±1.83 ng/ml and 307.43±139.81 pg/ml)were significantly higher than those before treatment (2.23±0.11 ng/ml and 125.21±94.14 pg/ml),differences were statistically significant (t=7.83,P<0.01;t=7.52,P<0.01).Observation group after treatment serum FOL and Vit B12 levels (4.26 ± 1.83 ng/ml and 307.43 ± 139.81 pg/ml)and control group (5.49±3.91 ng/ml and 356.70±185.46 pg/ml),there was no statistically significant difference (t=1.78,P>0.05;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.

OBJECTIVE: To explore the phenotypic characteristics of paternal chromosomal simplex 3q microduplication syndrome. METHODS: Amniotic fluid samples of 3 fetuses from a same couple were subjected to prenatal diagnosis through combined high-resolution chromosomal G-banding karyotyping and chromosomal microarray analysis (CMA). Peripheral blood samples were also collected the couple for the determination of parental origin. RESULTS: The karyotypes of all three fetuses were 46,XN,dup(3)(q25q26.1), and their CMA results were arr[hg19]3q25.33q26.1(159 336 333-166 924 969)×3. The duplication in the three fetuses have all derived from their father. No anomaly with found with the mother by CMA . CONCLUSION Through combined G-banded chromosomal karyotyping and CMA assay, a paternally derived 3q25.33-q26.1 microduplication has been identified, which has enabled genetic counseling for this couple.
Female ; Pregnancy ; Humans ; Male ; Prenatal Diagnosis ; Genetic Testing ; Fetus ; Syndrome ; Mothers ; Fathers

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.
Chromosome Disorders ; diagnosis ; Chromosomes, Human, Pair 12 ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Microarray Analysis ; Mosaicism ; Pregnancy ; Prenatal Diagnosis