scholarly journals A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability

2018 ◽  
Vol 8 (1) ◽  
Author(s):  
J. R. M. Ceroni ◽  
R. L. Dutra ◽  
R. S. Honjo ◽  
J. C. Llerena ◽  
A. X. Acosta ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Congenital Anomalies ◽  
Copy Number ◽  
Copy Number Variations

X-linked CNV and skewed X-chromosome inactivation

2020 ◽  
pp. 19-21
Author(s):  
Е.А. Фонова ◽  
Е.Н. Толмачева ◽  
А.А. Кашеварова ◽  
М.Е. Лопаткина ◽  
К.А. Павлова ◽  
...  
Keyword(s):  
Cell Proliferation ◽  
Intellectual Disability ◽  
X Chromosome ◽  
Copy Number ◽  
Copy Number Variations ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Chromosome X ◽  
Skewed X Chromosome Inactivation

Смещение инактивации Х-хромосомы может быть следствием и маркером нарушения клеточной пролиферации при вариациях числа копий ДНК на Х-хромосоме. Х-сцепленные CNV выявляются как у женщин с невынашиванием беременности и смещением инактивации Х-хромосомы (с частотой 33,3%), так и у пациентов с умственной отсталостью и смещением инактивацией у их матерей (с частотой 40%). A skewed X-chromosome inactivation can be a consequence and a marker of impaired cell proliferation in the presence of copy number variations (CNV) on the X chromosome. X-linked CNVs are detected in women with miscarriages and a skewed X-chromosome inactivation (with a frequency of 33.3%), as well as in patients with intellectual disability and skewed X-chromosome inactivation in their mothers (with a frequency of 40%).

scholarly journals A Case With 4 de Novo Copy Number Variations With Clinical Features That Overlap 1q43q44 Microdeletion and 3q29 Microduplication Syndromes

2018 ◽  
Vol 5 ◽  
pp. 2329048X1879820
Author(s):  
Miriam Kessi ◽  
Jing Peng ◽  
Lifen Yang ◽  
Haolin Duan ◽  
Yulin Tang ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Corpus Callosum ◽  
Copy Number ◽  
De Novo ◽  
Copy Number Variations ◽  
Language Delay ◽  
Global Developmental Delay ◽  
Recurrent Infections ◽  
Dental Anomalies ◽  
Microdeletion Syndrome

1q43q44 microdeletion syndrome is characterized by intellectual disability/global developmental delay, epilepsy, dysmorphic facies, stereotypic movement, language delay, recurrent infections, dental anomalies, and hand and foot anomalies. Microcephaly and corpus callosum dysplasia are present in some cases depending on gene content. 3q29 microduplication syndrome is characterized by intellectual disability, language delay, microcephaly, and dental anomalies. We report the first case with 4 de novo copy number variations with clinical features which overlap 1q43q44 microdeletion and 3q29 microduplication syndromes. Our case presented with global developmental delay, epilepsy, recurrent infections, stereotypic movements, speech delay, microcephaly, facial dysmorphism, bilateral clinodactyly, and small puffy feet with metatarsus varus; however, she had no corpus callosum dysplasia. Our case highlights the role of multiple copy number variations in the occurrence of a certain phenotype. Moreover, it supports the theory that the loss of HNRNPU gene function cannot explain the occurrence of microcephaly and abnormalities of the corpus callosum in 1q43q44 microdeletion syndrome.

scholarly journals Phenotypic and Molecular Cytogenetic Analysis of a Case of Monosomy 1p36 Syndrome due to Unbalanced Translocation

2020 ◽  
Vol 11 (5-6) ◽  
pp. 284-295
Author(s):  
Dalia F. Hussen ◽  
Alaa K. Kamel ◽  
Mona K. Mekkawy ◽  
Engy A. Ashaat ◽  
Mona O. El Ruby
Keyword(s):  
Intellectual Disability ◽  
Microarray Analysis ◽  
Cytogenetic Analysis ◽  
Copy Number ◽  
Clinical Manifestations ◽  
Copy Number Variations ◽  
Chromosomal Microarray Analysis ◽  
Fish Analysis ◽  
Unbalanced Translocation ◽  
Genotype Correlation

Monosomy 1p36 syndrome is one of the most common submicroscopic deletion syndromes, which is characterized by the presence of delayed developmental milestones, intellectual disability, and clinically recognizable dysmorphic craniofacial features. The syndrome comprises 4 cytogenetic groups including pure terminal deletions, interstitial deletions, complex rearrangements, and derivative chromosomes 1 due to unbalanced translocations, where unbalanced translocations represent the least percentage of all cases of monosomy 1p36 (7%). Most patients with monosomy 1p36 due to an unbalanced translocation can be cytogenetically diagnosed using conventional techniques. However, chromosomal microarray analysis is mandatory in these cases to detect copy number variance and size of the deletion and allows for setting a phenotype-genotype correlation. Here, we studied a 1.5-year-old female patient who showed intellectual disability, delayed milestones, hypotonia, seizures, and characteristic dysmorphic features including brachycephaly, straight eyebrows, deep-set eyes, downslanting palpebral fissures, midface hypoplasia, depressed nasal bridge, long philtrum, and pointed chin. Conventional cytogenetic analysis (CCA), microarray study, and fluorescence in situ hybridization (FISH) analysis were performed. CCA showed a translocation involving chromosomes 1 and 21, 45,XX,der(1)t(1;21)(p36.32;q21.1)dn. Microarray analysis revealed copy number losses at both 1p36 and proximal 21q. FISH confirmed the presence of the 1p36 deletion, but was not performed for 21q. We have concluded that phenotype-genotype correlation for monosomy 1p36 syndrome can be performed for the fundamental clinical manifestations; however, the final aspect of the syndrome depends on composite factors. Monosomy 1p36 due to unbalanced translocation may present either classically or with additional altered features of various severity based on the copy number variations involving different chromosomes.

scholarly journals Multiple de novo copy number variations in two subjects with developmental problems and multiple congenital anomalies

2012 ◽  
Vol 6 (S6) ◽  
Author(s):  
Pengfei Liu ◽  
Klaudia Walter ◽  
Karin Writzl ◽  
Violet Gelowani ◽  
Sarah Lindsay ◽  
...  
Keyword(s):  
Congenital Anomalies ◽  
Copy Number ◽  
De Novo ◽  
Copy Number Variations ◽  
Multiple Congenital Anomalies ◽  
Developmental Problems

Subtelomeric Copy Number Variations: The Importance of 4p/4q Deletions in Patients with Congenital Anomalies and Developmental Disability

2016 ◽  
Vol 149 (4) ◽  
pp. 241-246 ◽  
Author(s):  
Gil M. Novo-Filho ◽  
Marília M. Montenegro ◽  
Évelin A. Zanardo ◽  
Roberta L. Dutra ◽  
Alexandre T. Dias ◽  
...  
Keyword(s):  
Developmental Disability ◽  
Congenital Anomalies ◽  
Copy Number ◽  
Neurological Diseases ◽  
Copy Number Variations ◽  
Structural Variations ◽  
Genomic Changes ◽  
Subtelomeric Regions

The most prevalent structural variations in the human genome are copy number variations (CNVs), which appear predominantly in the subtelomeric regions. Variable sizes of 4p/4q CNVs have been associated with several different psychiatric findings and developmental disability (DD). We analyzed 105 patients with congenital anomalies (CA) and developmental and/or intellectual disabilities (DD/ID) using MLPA subtelomeric specific kits (P036 /P070) and 4 of them using microarrays. We found abnormal subtelomeric CNVs in 15 patients (14.3%), including 8 patients with subtelomeric deletions at 4p/4q (53.3%). Additional genomic changes were observed at 1p36, 2q37.3, 5p15.3, 5q35.3, 8p23.3, 13q11, 14q32.3, 15q11.2, and Xq28/Yq12. This indicates the prevalence of independent deletions at 4p/4q, involving PIGG, TRIML2, and FRG1. Furthermore, we identified 15 genes with changes in copy number that contribute to neurological development and/or function, among them CRMP1, SORCS2, SLC25A4, and HELT. Our results highlight the association of genes with changes in copy number at 4p and 4q subtelomeric regions and the DD phenotype. Cytogenomic characterization of additional cases with distal deletions should help clarifying the role of subtelomeric CNVs in neurological diseases.

scholarly journals miRNA and miRNA target genes in copy number variations occurring in individuals with intellectual disability

BMC Genomics ◽  
2013 ◽  
Vol 14 (1) ◽  
pp. 544 ◽  
Author(s):  
Ying Qiao ◽  
Chansonette Badduke ◽  
Eloi Mercier ◽  
Suzanne ME Lewis ◽  
Paul Pavlidis ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Copy Number ◽  
Mirna Target ◽  
Target Genes ◽  
Copy Number Variations

scholarly journals Xp11.2 Duplication in Females: Unique Features of a Rare Copy Number Variation

2021 ◽  
Vol 12 ◽  
Author(s):  
Márta Czakó ◽  
Ágnes Till ◽  
Judith Zima ◽  
Anna Zsigmond ◽  
András Szabó ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Copy Number Variation ◽  
Copy Number ◽  
Neurodevelopmental Disorder ◽  
Copy Number Variations ◽  
Pathogenic Role ◽  
Routine Application ◽  
Phenotype Analysis ◽  
Number Variation ◽  
Minor Anomalies

Among the diseases with X-linked inheritance and intellectual disability, duplication of the Xp11.23p11.22 region is indeed a rare phenomenon, with less than 90 cases known in the literature. Most of them have been recognized with the routine application of array techniques, as these copy number variations (CNVs) are highly variable in size, occurring in recurrent and non-recurrent forms. Its pathogenic role is not debated anymore, but the information available about the pathomechanism, especially in affected females, is still very limited. It has been observed that the phenotype in females varies from normal to severe, which does not correlate with the size of the duplication or the genes involved, and which makes it very difficult to give an individual prognosis. Among the patients studied by the authors because of intellectual disability, epilepsy, and minor anomalies, overlapping duplications affecting the Xp11.23p11.22 region were detected in three females. Based on our detailed phenotype analysis, we concluded that Xp11.23p11.22 duplication is a neurodevelopmental disorder.

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