Schizophrenia is a common psychiatric disorder with a strong genetic contribution. Disease-associated chromosomal abnormalities in this condition may provide important clues, such as DISC1. In this study, 59 schizophrenia patients were analyzed by microarray comparative genomic hybridization (CGH) using custom bacterial artificial chromosome (BAC) microarray (4,219 BACs with 0.7-Mb resolution). Chromosomal abnormalities were found in six patients (10%): 46,XY,der(13)t(12;13)(p12.1; p11).ish del(5)(p11p12); 46,XY, ish del(17)(p12p12); 46,XX.ish dup(11)(p13p13); and 46,X,idic(Y)(q11.2); and in two cases, mos 45,X/46XX. Autosomal abnormalities in three cases are likely to be pathogenic, and sex chromosome abnormalities in three follow previous findings. It is noteworthy that 10% of patients with schizophrenia have (sub)microscopic chromosomal abnormalities, indicating that genome-wide copy number survey should be considered in genetic studies of schizophrenia.
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http://dx.doi.org/10.1007/s10038-008-0327-6 | DOI Listing |
Hereditas
January 2025
Key Laboratory of Reproductive Health Diseases Research and Translation of Ministry of Education & Key Laboratory of Human Reproductive Medicine and Genetic Research of Hainan Provincie & Hainan Provincial Clinical Research Center for Thalassemia, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, Hainan, 571101, China.
Background: The dynein cytoplasmic two heavy chain 1 (DYNC2H1) gene encodes a cytoplasmic dynein subunit. Cytoplasmic dyneins transport cargo towards the minus end of microtubules and are thus termed the "retrograde" cellular motor. Mutations in DYNC2H1 are the main causative mutations of short rib-thoracic dysplasia syndrome type III with or without polydactyly (SRTD3).
View Article and Find Full Text PDFArch Gynecol Obstet
January 2025
Department of Obstetrics and Gynecology, McGill University, 845 Rue Sherbrooke, O, Montreal, QC, 3HA 0G4, Canada.
Purpose: To examine the association between blastocyst morphology and chromosomal status utilizing pre-implantation genetic testing for aneuploidy (PGT-A).
Methods: A single-center retrospective cohort study including 169 in-vitro fertilization cycles that underwent PGT-A using Next Generation Sequencing (2017-2022). Blastocysts were morphologically scored based on Gardner and Schoolcraft's criteria.
Front Pediatr
January 2025
Department of Neurology, Second Affiliated Hospital of Fujian Medical University, Quanzhou, China.
Background: Whole exome sequencing (WES) technology has been increasingly used for the etiological diagnosis of fetuses with ultrasound anomalies. In this article, we report a novel deletion compound combined with a causative variant in gene leading to short-rib thoracic dysplasia 7 (SRTD7) with or without polydactyly using WES.
Methods: This study involved a Chinese fetus with clinical features of skeletal dysplasia on ultrasound imaging, in whom chromosome abnormalities and copy number variants (CNVs) were detected by chromosomal microarray analysis (CMA), and sequence variants were detected by WES.
Echocardiography
February 2025
Department of Obstetrics and Gynecology, Ministry of Health, Ankara City Hospital, Ankara, Turkey.
Purpose: To investigate fetal cardiac functions and remodeling in pregnancies conceived via in vitro fertilization (IVF).
Methods: This prospective case-control study included 40 singleton IVF pregnancies and 46 uncomplicated control pregnancies at 28-36 weeks of gestation. The IVF group consisted of pregnancies applied to the outpatient clinic, excluding those with anatomical or chromosomal abnormalities.
BMC Pediatr
January 2025
Pediatric Internal Medicine, Yantai Yuhuangding Hospital, No.20 Yuhuangding East Road, Zhifu District, Yantai City, Shandong, 264000, China.
Background: Common clinical findings in patients with 19p13.3 duplication include intrauterine growth restriction, intellectual disability, developmental delay, microcephaly, and distinctive facial features. In this study, we report the case of a patient with 19p13.
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