scholarly journals 22q11.2 Microduplications: Two Clinical Reports Compared with Similar Cases from the Literature

2020 ◽  
Vol 09 (03) ◽  
pp. 211-220
Author(s):  
Aderonke Oyetunji ◽  
Merlin G. Butler
Keyword(s):  
Autism Spectrum Disorder ◽  
Intellectual Disability ◽  
High Resolution ◽  
Autism Spectrum ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Chromosome 22Q11.2 ◽  
Low Copy Repeats ◽  
Velo Cardio Facial Syndrome ◽  
Male Subjects

AbstractWe present two male subjects (6 and 14 years old) with mild dysmorphism, intellectual disability, and/or autism spectrum disorder with chromosome 22q11.2 microduplications of different sizes. We then compared the clinical and genetic findings with similar cases from the literature sharing the same 22q11.2 duplications. These rare duplications in our subjects were identified by high-resolution chromosomal microarray analysis and flanked by low copy repeats in the 22q11.2 region, specifically LCR22A, LCR22B, and LCR22D. The typical 22q11.2 defect generally involves a deletion at breakpoints LCR22A and LCR22D causing DiGeorge or velo-cardio-facial syndrome and not duplications of varying sizes as seen in our male subjects.

scholarly journals Rare partial trisomy and tetrasomy of 15q11-q13 associated with developmental delay and autism spectrum disorder 

2020 ◽  
Author(s):  
Yinghong Lu ◽  
Yi Liang ◽  
Sisi Ning ◽  
Guosheng Deng ◽  
Yulin Xie ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Intellectual Disability ◽  
High Resolution ◽  
Developmental Delay ◽  
Motor Development ◽  
Clinical Symptoms ◽  
Karyotype Analysis ◽  
Partial Trisomy ◽  
Autism Spectrum ◽  
Spectrum Disorder

Abstract Background: Small supernumerary marker chromosomes (sSMCs), are additional abnormal chromosomes, which can’t be detected accurately by banding cytogenetic analysis. Abnormal phenotypes were observed in about 30% of SMC carriers. Duplication of chromosome 15 and related disorders, characterized by hypotonia motor delays, autism spectrum disorder (ASD), intellectual disability, and epilepsy including infantile spasms, might be account for 50% of the total sSMCs. Case presentation: An 11-month-old infant with an sSMC fond by banding cytogenetics was referred to our clinic because of developmental retardation and autism spectrum disorder. After several months of rehabilitation treatment, the progress of motor development was obvious, but the consciousness was still far from satisfied. High-resolution karyotype analysis, multiplex ligation-dependent probe amplification and copy number variation sequencing (CNV-Seq) were conducted to confirm the identity of the sSMC. A bisatellited dicentric sSMC was observed clearly in high-resolution karyotype analysis and a 10.16-Mb duplication of 15q11.1q13.2 (3.96 copies) together with a 1.84-Mb duplication of 15q13.2q13.3 (3 copies) was showed by CNV-Seq in the proband. It suggested that the molecular cytogenetic karyotype was 47,XY,+dic(15;15)(q13.2;q13.3). Furthermore, the clinical symptoms of the proband mostly fit 15q duplication related disorders which are characterized by hypotonia motor delays, autism spectrum disorder (ASD), and intellectual disability. Conclusion: We reported for the first time using CNV-Seq to detect sSMCs and find a partial trisomy and tetrasomy of 15q11-q13 associated with developmental delay and autism spectrum disorder. Our report indicates that CNV-seq is a useful and economical way for diagnosis of dup15q and related disorders.

scholarly journals AB051. Chromosomal microarray analysis in a large cohort of Thai patients with autism spectrum disorder

2017 ◽  
Vol 5 (S2) ◽  
pp. AB051-AB051
Author(s):  
Juthamas Worachotekamjorn ◽  
Tippawan Hansakunachai ◽  
Kitiwan Rojnueangnit ◽  
Rawiwan Roongpraiwan ◽  
Nichara Ruangdaraganon ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Microarray Analysis ◽  
Autism Spectrum ◽  
Large Cohort ◽  
Spectrum Disorder ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis

The Clinical Dilemma of Autism Spectrum Disorder Diagnosis in a Child with 9p Deletion

2020 ◽  
Author(s):  
Brendan E. Karba ◽  
Jean-Francois Lemay ◽  
Scott A. McLeod
Keyword(s):  
Autism Spectrum Disorder ◽  
Genetic Diagnosis ◽  
Receptive Language ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Genetic Syndromes ◽  
Nasal Bridge ◽  
Clinical Dilemma

AbstractWe report on a 3-year-old girl with the presence of trigonocephaly, broad nasal bridge, flattened occiput, and midface hypoplasia. Formal assessment of her development profile demonstrated expressive and receptive language delays, fine and gross motor delays, and no imaginative or symbolic representative play. Investigation of the etiology of her developmental delays revealed a genetic diagnosis of a 9p24 deletion by chromosomal microarray analysis. The possibility of an additional co-occurring disorder of autism spectrum disorder (ASD) was also raised by a referring clinician. This case highlights the clinical dilemma of diagnosing ASD in those with existing genetic syndromes.

scholarly journals Chromosomal Microarray Analysis in Children with Unexplained Developmental Delay/Intellectual Disability

2018 ◽  
Vol 08 (01) ◽  
pp. 001-009
Author(s):  
Pinar Arican ◽  
Berk Ozyilmaz ◽  
Dilek Cavusoglu ◽  
Pinar Gencpinar ◽  
Kadri Erdogan ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
De Novo ◽  
Copy Number Variants ◽  
Autism Spectrum ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Genetic Syndromes ◽  
Pathogenic Cnvs ◽  
Spectrum Disorders

AbstractChromosomal microarray (CMA) analysis for discovery of copy number variants (CNVs) is now recommended as a first-line diagnostic tool in patients with unexplained developmental delay/intellectual disability (DD/ID) and autism spectrum disorders. In this study, we present the results of CMA analysis in patients with DD/ID. Of 210 patients, pathogenic CNVs were detected in 26 (12%) and variants of uncertain clinical significance in 36 (17%) children. The diagnosis of well-recognized genetic syndromes was achieved in 12 patients. CMA analysis revealed pathogenic de novo CNVs, such as 11p13 duplication with new clinical features. Our results support the utility of CMA as a routine diagnostic test for unexplained DD/ID.

scholarly journals Chromosomal microarray analysis of 410 Han Chinese patients with autism spectrum disorder or unexplained intellectual disability and developmental delay

2022 ◽  
Vol 7 (1) ◽  
Author(s):  
Yi Liu ◽  
Yuqiang Lv ◽  
Mehdi Zarrei ◽  
Rui Dong ◽  
Xiaomeng Yang ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
Microarray Analysis ◽  
Diagnostic Yield ◽  
Autism Spectrum ◽  
Han Chinese ◽  
Chinese Patients ◽  
European Ancestry ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis

AbstractCopy number variants (CNVs) are recognized as a crucial genetic cause of neurodevelopmental disorders (NDDs). Chromosomal microarray analysis (CMA), the first-tier diagnostic test for individuals with NDDs, has been utilized to detect CNVs in clinical practice, but most reports are still from populations of European ancestry. To contribute more worldwide clinical genomics data, we investigated the genetic etiology of 410 Han Chinese patients with NDDs (151 with autism and 259 with unexplained intellectual disability (ID) and developmental delay (DD)) using CMA (Affymetrix) after G-banding karyotyping. Among all the NDD patients, 109 (26.6%) carried clinically relevant CNVs or uniparental disomies (UPDs), and 8 (2.0%) had aneuploidies (6 with trisomy 21 syndrome, 1 with 47,XXY, 1 with 47,XYY). In total, we found 129 clinically relevant CNVs and UPDs, including 32 CNVs in 30 ASD patients, and 92 CNVs and 5 UPDs in 79 ID/DD cases. When excluding the eight patients with aneuploidies, the diagnostic yield of pathogenic and likely pathogenic CNVs and UPDs was 20.9% for all NDDs (84/402), 3.3% in ASD (5/151), and 31.5% in ID/DD (79/251). When aneuploidies were included, the diagnostic yield increased to 22.4% for all NDDs (92/410), and 33.6% for ID/DD (87/259). We identified a de novo CNV in 14.9% (60/402) of subjects with NDDs. Interestingly, a higher diagnostic yield was observed in females (31.3%, 40/128) compared to males (16.1%, 44/274) for all NDDs (P = 4.8 × 10−4), suggesting that a female protective mechanism exists for deleterious CNVs and UPDs.

scholarly journals Genetic Testing in Neurodevelopmental Disorders

2021 ◽  
Vol 9 ◽  
Author(s):  
Juliann M. Savatt ◽  
Scott M. Myers
Keyword(s):  
Autism Spectrum Disorder ◽  
Intellectual Disability ◽  
Genetic Testing ◽  
Neurodevelopmental Disorders ◽  
Diagnostic Yield ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Chromosomal Microarray ◽  
Global Developmental Delay ◽  
Cgg Repeat

Neurodevelopmental disorders are the most prevalent chronic medical conditions encountered in pediatric primary care. In addition to identifying appropriate descriptive diagnoses and guiding families to evidence-based treatments and supports, comprehensive care for individuals with neurodevelopmental disorders includes a search for an underlying etiologic diagnosis, primarily through a genetic evaluation. Identification of an underlying genetic etiology can inform prognosis, clarify recurrence risk, shape clinical management, and direct patients and families to condition-specific resources and supports. Here we review the utility of genetic testing in patients with neurodevelopmental disorders and describe the three major testing modalities and their yields – chromosomal microarray, exome sequencing (with/without copy number variant calling), and FMR1 CGG repeat analysis for fragile X syndrome. Given the diagnostic yield of genetic testing and the potential for clinical and personal utility, there is consensus that genetic testing should be offered to all patients with global developmental delay, intellectual disability, and/or autism spectrum disorder. Despite this recommendation, data suggest that a minority of children with autism spectrum disorder and intellectual disability have undergone genetic testing. To address this gap in care, we describe a structured but flexible approach to facilitate integration of genetic testing into clinical practice across pediatric specialties and discuss future considerations for genetic testing in neurodevelopmental disorders to prepare pediatric providers to care for patients with such diagnoses today and tomorrow.

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