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Objective: To discuss the advantages and technical limitations of various molecular genetic techniques in the diagnosis of two infants featuring all-round developmental retardation., Methods: The two patients were initially screened by using chromosomal microarray analysis (CMA). For patient 1, his parents were also subjected to CMA analysis, and the data was analyzed by using ChAS and UPD-tool software. For patient 2, methylation-specific PCR (MS-PCR) was carried out., Results: Patient 1 was diagnosed with maternal uniparental disomy (UPD) type Prader-Willi syndrome (PWS) by CMA and UPD-tool family analysis. His chromosomes 15 were of maternal UPD with homology/heterology. Patient 2 was diagnosed with deletion type PWS by combined CMA and MS-PCR., Conclusion: Correct selection of laboratory methods based on the advantages and limitations of various molecular techniques can help with diagnosis of genomic imprinting disorders and enable better treatment and prognosis through early intervention.

Objective: To analyze a fetus with abnormal cardiac ultrasound by using various techniques and explore its genotype-phenotype correlation., Methods: Lymphocytes derived from umbilical cord blood sample were subjected to G-banding analysis. Short tandem repeats quantitative fluorescence PCR (STR-QF-PCR) was used for analysis of fetal DNA as an auxiliary test. Low-coverage whole genome sequencing (WGS) was used to detect chromosomal deletion/duplication which exceeded 100 kb in size., Results: The karyotype of the fetus was 47,XN,+mar. As detected by STR-QF-PCR, the copy number of GATA178F11 locus on chromosome 18 was 4, and the duplicated fragment was derived from the mother. WGS suggested that the fetus to be 46,XN,dup(18p11.21p11.32).seq [GRCh37/hg19](10 001-15 378 887)× 4, with the duplicated fragment spanning approximately 15.38 Mb., Conclusion: The cardiac malformation of the fetus may be attributed to the partial duplication of chromosome 18p. Combined cytogenetic and molecular methods can facilitate prenatal detection of genetic abnormalities.

Objective: To assess the association of G protein-coupled estrogen receptor(GPER) gene polymorphism with social function of children with attention deficit hyperactivity disorder (ADHD)., Methods: The social function of 135 children with ADHD were assessed by Weiss Functional Impairment Scale-Parent form (WFIRS-P). The coding region of GPER gene of all patients was subjected to Sanger sequencing. The association of polymorphisms with the social function of the ADHD children was analyzed., Results: In the case group, the social function scores of Learning and School and Risky Activities of boys were significantly higher than those of girls (t=2.704, P=0.008; t=2.289, P=0.027). No significant difference was found in the genotypic frequencies of the c.-9T/C and c.789G/A loci between different genders. But the learning and school scores of those with a TC genotype for the c.-9T to C locus were significantly higher than those with a TT genotype (t= 2.159, P=0.033)., Conclusion: For children with ADHD, the social function of Learning and School of those with a TC genotype of the GPER gene c.-9T/C locus is more severely damaged compared with those with a TT genotype.