Misalignments of low-copy repeats (LCRs) located in chromosome 22, particularly band 22q11.2, predispose to rearrangements. A variety of phenotypic features are associated with 22q11.2 microduplication syndrome which makes it challenging for the genetic counselors to recommend appropriate genetic assessment and counseling for the patients. In this study, multiplex ligation probe dependent ampli...

Renal and renovascular abnormalities constitute features of the Williams-Beuren syndrome (WBS), one multisystem genetic disorder in childhood, caused by a microdeletion of chromosome 7. We report a 12 years old boy who was diagnosed with WBS and had an ectopic pelvic hypoplastic left kidney, detected by ultrasonography and renal scintigraphy. Dystopic hypoplastic kidney is an infrequent finding...

Copy number variation (CNV) in 15q11.2, especially between BP1 and BP2, has been reported to be pathogenic and associated with autism spectrum disorder in White populations (Madrigal et al., 2012; Sorte et al., 2013). The segment between BP1 and BP2 contains four evolutionarily conserved genes, TUBGCP5, NIPA1, NIPA2, and CYFIP1, which are widely expressed in the neuronal tissue. Here, we report...

Prader-Willi syndrome is a neurogenetic disorder characterized by hypotonia and feeding difficulties in infancy, followed by hyperphagia, hypogonadism, mental retardation, and short stature. It was the first recognized microdeletion syndrome identified with high-resolution chromosome analysis, the first recognized human genomic imprinting disorder, and the first recognized disorder resulting fr...

BACKGROUND To date, the role of male factor contributing in evaluation of spontaneous recurrent pregnancy loss (RPL) has been less investigated and there is discrepancy in the role of Y chromosome microdeltions in RPL. Therefore, the current study was designed to examine whether Y chromosome microdeletions were associated with RPL in an Iranian population. METHODS One hundred men from couples...

BACKGROUND It has been hypothesized that Y-q microdeletion can account for significant proportion of infertility in men. There are three nonoverlapping regions referred to as the "azoozpermia factors" AZFa, AZFb, and AZFc from proximal to distal part of Y-q. These have been defined as spermatogenesis loci, this region deletions have been shown to be involved in male azoospermic or severe oligoo...

Human chromosome 16p11.2 microdeletion is the most common gene copy number variation in autism, but the synaptic pathophysiology caused by this mutation is largely unknown. Here we show using a mouse with the same genetic deficiency that metabotropic glutamate receptor 5(mGluR5-) dependent synaptic plasticity and protein synthesis is altered in the hippocampus, and that hippocampus-dependent me...