Early infantile‐onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy
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DOI: 10.1002/humu.23675
Abstract: The genetic etiologies of many rare disorders, including early infantile epileptic encephalopathies, are largely undiagnosed. A 6‐year‐old girl was admitted to the National Institutes of Health Undiagnosed Diseases Program with profound intellectual disability, infantile‐onset seizures,… read more here.
Keywords: uniparental disomy; microdeletion; homozygous microdeletion; early infantile ... See more keywords
Hemiconvulsion–hemiplegia–epilepsy syndrome with 5q33.3q34 microdeletion: Causal or chance association
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DOI: 10.1002/jdn.10114
Abstract: Hemiconvulsion–hemiplegia–epilepsy (HHE) syndrome is a rare syndrome characterized by childhood onset partial motor convulsions, hemiplegia, and epilepsy in sequence. We presented a girl with global developmental delay with history and brain MRI consistent with the… read more here.
Keywords: hemiconvulsion hemiplegia; hhe syndrome; microdeletion; 5q33 3q34 ... See more keywords
Coexistence of urogenital malformations in a female fetus with de novo 15q24 microdeletion and a literature review
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DOI: 10.1002/mgg3.1265
Abstract: 15q24 microdeletion is a relatively new syndrome caused by nonallelic homologous recombination (NAHR) between low‐copy repeats (LCRs) in the 15q24 chromosome region. This syndrome is characterized by a spectrum of clinical symptoms including global developmental… read more here.
Keywords: 15q24 microdeletion; microdeletion; female fetus; coexistence urogenital ... See more keywords
Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth
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DOI: 10.1007/s00439-017-1832-5
Abstract: Neurofibromatosis type I (NF1) microdeletion syndrome, which is present in 4–11% of NF1 patients, is associated with a severe phenotype as it is caused by the deletion of NF1 and other genes in the 17q11.2… read more here.
Keywords: microdeletion; deletion; nf1 patient; gene ... See more keywords
Clinical Features of Patients With 7p22.1 Microdeletion
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DOI: 10.1007/s13312-020-1865-z
Abstract: With the advent of comparative genomic hybridization (CGH) technology, more patients with microduplications or micro deletions are being reported. Herein, we report an 11-year-old girl with 7p22.1 microdeletion who presented with short stature and intellectual… read more here.
Keywords: clinical features; features patients; microdeletion; 7p22 microdeletion ... See more keywords
Phenotypic features of 1q41q42 microdeletion including WDR26 and FBXO28 are clinically recognizable: The first case from Japan
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DOI: 10.1016/j.braindev.2018.12.006
Abstract: 1q41q42 microdeletion syndrome has been established in 2007. Since then, more than 17 patients have been reported so far. The reported deletions showed random breakpoints and deletion regions are aligned as roof tiles. Patients with… read more here.
Keywords: wdr26 fbxo28; 1q41q42 microdeletion; microdeletion syndrome; microdeletion ... See more keywords
SA60 TRANSCRIPTIONAL CHANGES IN MOUSE MODELS OF THE 15Q13.3 MICRODELETION SYNDROME
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DOI: 10.1016/j.euroneuro.2017.08.132
Abstract: Background The 15q13.3 microdeletion syndrome is caused by a 1.5 MB hemizygous microdeletion at chromosome 15q13.3 affecting seven genes: FAN1, MTMR10, TRPM1, MIR211, KLF13, OTUD7A, and CHRNA7. The 15q13.3 microdeletion increases the risk of intellectual… read more here.
Keywords: 15q13 microdeletion; mouse models; microdeletion syndrome; microdeletion ... See more keywords
Y chromosome microdeletions in azoospermic and oligozoospermic Tunisian men
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DOI: 10.1016/j.mefs.2017.11.004
Abstract: Abstract Introduction In the present work, we aim to determine the frequency of Y microdeletions and to study the clinical and biological characteristics in idiopathic azoospermic and oligozoospermic men originating from the center of Tunisia.… read more here.
Keywords: azoospermic oligozoospermic; chromosome microdeletions; tunisian men; microdeletion ... See more keywords
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases
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DOI: 10.1038/ejhg.2017.49
Abstract: 16q24 deletion involving the ANKRD11 gene, ranging from 137 kb to 2 Mb, have been associated with a microdeletion syndrome characterized by variable cognitive impairment, autism spectrum disorder, facial dysmorphisms with dental anomalies, brain abnormalities essentially affecting… read more here.
Keywords: ankrd11 flanking; microdeletion; flanking genes; haploinsufficiency ankrd11 ... See more keywords
Prenatal upper-limb mesomelia and 2q31.1 microdeletions affecting the regulatory genome
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DOI: 10.1038/gim.2018.19
Abstract: To the Editor: We read with great interest the article “Noncoding Copy-Number Variations Are Associated With Congenital Limb Malformation,” by Flöttmann et al.1 Their work represents the first large-scale study assessing copynumber variants (CNVs) in… read more here.
Keywords: hoxd cluster; limb; affecting regulatory; microdeletion ... See more keywords
A mouse model of the schizophrenia-associated 1q21.1 microdeletion syndrome exhibits altered mesolimbic dopamine transmission
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DOI: 10.1038/s41398-017-0011-8
Abstract: Abstract1q21.1 hemizygous microdeletion is a copy number variant leading to eightfold increased risk of schizophrenia. In order to investigate biological alterations induced by this microdeletion, we generated a novel mouse model (Df(h1q21)/+) and characterized it… read more here.
Keywords: schizophrenia; h1q21 mice; microdeletion; mice ... See more keywords