We describe two patients, who were assessed at a child psychiatry clinic, with a known genetic disorder in the ARHGEF9 gene on the long arm of the X chromosome. The boys presented with developmental delay, hyperactivity, autism spectrum disorder and epilepsy. This prompted us to conduct a literature search on previously identified patients with the same mutation and its impact on psychiatric symptoms in children. Recent evolutions in genetic technologies have led to the possibility of identifying and investigating more children with developmental disorders with or without psychiatric disorders. Child psychiatrists are confronted with the question what role genetics play in the child\'s clinical presentation. A basic knowledge of genetic principles is now required.

OBJECTIVE: Gestational diabetes mellitus (GDM) may share similar mechanisms with type 2 diabetes and obesity. In the current study, we aimed to verify twenty genes reported to be associated with type 2 diabetes and obesity in the Chinese GDM population.
METHODS: Pregnant women aged 20-49 years at 24-28 gestational weeks were recruited and 556 cases and 445 controls were enrolled in the study. The genotyping of single nucleotide polymorphisms (SNPs) was performed on peripheral blood samples.
RESULTS: We discovered that GDM was associated with rs945508 (OR = 1.368, 95% CI = 1.080-1.732, p = .009), rs10804591 (OR = 1.446, 95% CI = 1.192-1.754, p < .001), rs10245353 (OR = 1.204, 95% CI = 1.006-1.441, p = .043) and rs1552224 (OR = 1.451, 95% CI = 1.071-1.964, p = .016).
CONCLUSIONS: We found that four SNPs associated with type 2 diabetes and obesity may also increase the risk of developing GDM in the Chinese population. Among these SNPs, we report for the first time that rs945508 in ARHGEF11, rs10804591 in PLXND1 and rs10245353 in NFE2L3 were associated with GDM.

Autistic spectrum disorder (ASD) is a group of neurodevelopmental disorders characterized by impairments of social interaction, communication and restricted, repetitive and stereotyped patterns of behavior, interests and activities. Frequencies of chromosomal abnormalities in cohorts of individuals with ASD varying between 1.2 and 28.6% have been reported. In this study, we evaluated 203 Thai children who met the criteria of the Diagnostic and Statistical Manual of Mental Disorders, 4th edition (DSM-IV), for autistic disorder or pervasive developmental disorder not otherwise specified (PDD-NOS), and who had neither major dysmorphic features nor CGG repeat expansions of the FMR1 gene. A routine G-banding chromosome analysis was performed at a minimum of ISCN 400-550 bands. A chromosomal abnormality was observed in one child (0.5%), a 41-month-old boy with a ring chromosome 13 detected by G-banding analysis and subsequently confirmed by FISH. SNP microarray analysis detected a 2.11-Mb deletion of chromosome 13q34, encompassing 23 genes. The MCF2L and UPF3A genes are among those genes that may explain the autistic features in our case. To the best of our knowledge, only one autistic case with a ring chromosome 13 has been previously reported. In this article, we also systemically reviewed 21 studies that utilized a conventional cytogenetic method to detect chromosomal abnormalities in patients with ASD. When we summed all cases with chromosomal abnormalities, including the case from our study, the frequency of chromosomal abnormalities detected by conventional cytogenetics in patients with ASD was 3.2% (118/3,712).