Chromosomal microarray analysis is a first-stage test that is used for the diagnosis of intellectual disability and global developmental delay. Chromosomal microarray analysis can detect well-known microdeletion syndromes. It also contributes to the identification of genes that are responsible for the phenotypes in the new copy number variations. Chromosomal microarray analysis was conducted on 124 patients with intellectual disability and global developmental delay. Multiplex ligation-dependent probe amplification was used for the confirmation of chromosome 22q11.2 deletion/duplication. 26 pathogenic and likely pathogenic copy number variations were detected in 23 patients (18.55%) in a group of 124 Turkish patients with intellectual disability and global developmental delay. Chromosomal microarray analysis revealed pathogenic de novo Copy number variations, such as a novel 2.9-Mb de novo deletion at 18q22 region with intellectual disability and autism spectrum disorder, and a 22q11.2 region homozygote duplication with new clinical features. Our data expand the spectrum of 22q11.2 region mutations, reveal new loci responsible from autism spectrum disorder and provide new insights into the genotype–phenotype correlations of intellectual disability and global developmental delay.

Introduction: The aim of this study was to report surgical strategies and clinical outcomes for thoraco-lumbar intradural lipomas. Intraspinal lipomas are rare congenital histologically benign neoplasms, which account for less than 1% of all spinal cord tumors. These tumors are most frequently found in the lumbosacral area as components of a dysraphic state, however, intramedullary lipomas are not associated with spina bifida or cutaneous malformations and have only been described as isolated cases among spinal lipomas, where the thoracolumbar region is rarely affected. Case Presentation: Three patients with thoracolumbar intradural lipomas were admitted to our clinic at different points of time. Partial resections and debulking of the tumors were achieved with the guidance of an operating microscope. We performed laminectomies or laminoplasties, for tumor resections. Discussion: Postoperatively, the patients demonstrated significant clinical improvements. In this manuscript we presented our surgical experiences for intraspinal lipomas. Keywords: Lipoma; Spinal Cord; Spinal Dysraphism; Diagnostic Techniques, Surgical

Coffin-Lowry syndrome (CLS) is a rare X-linked semidominant syndromic genetic disorder that is characterized by typical facial and radiologic findings, psychomotor and growth retardation, and various skeletal anomalies. A distinctive paroxysmal disorder called stimulus-bound myoclonus is clinically heterogeneous and is generally characterized by a sudden loss of muscle tone that is regained within a few seconds and is induced by sudden auditory or tactile stimulus. As the pathophysiology of stimulus-induced drop episodes (SIDEs) is not well understood, there is no definite therapy for those episodes. We report a 15-year-old female with stimulus-induced drop episodes occurring many times a day that resulted in failure to perform her daily activities. Because her SIDEs were misdiagnosed as atonic seizures, she was treated with several antiepileptic drugs, including valproic acid, levetiracetam, lamotrigine, primidone, carbamazepine, and clobazam. We realized that her clinical and radiological findings, together with SIDEs, are compatible with Coffin-Lowry syndrome. All of her medications were discontinued following the diagnosis of SIDE, and she was started on clonazepam. After treatment, she became more independent and was able to perform her daily activities. Subsequently, her episodes decreased from 3 times a day to 1-2 times a month. Sodium oxybate and fluoxetine were added to the treatment protocol without remarkable improvement. Her genetic analysis revealed a heterozygous variation of CLS. We conclude that SIDE should be included in a differential diagnosis of epileptic seizures in patients with CLS and that clonazepam is an effective choice in the treatment of SIDEs.