scholarly journals Case Report: a novel chromosomal insertion, 46, XY, inv ins(18;2)(q11.2;q13q22), in a patient with infertility and mild intellectual disability

F1000Research ◽  
2019 ◽  
Vol 8 ◽  
pp. 281
Author(s):  
Murat Kaya ◽  
İlknur Suer ◽  
Şükrü Öztürk ◽  
Kıvanç ÇEFLE ◽  
Birsen Karaman ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Comparative Genomic ◽  
The Novel ◽  
Mild Intellectual Disability ◽  
Comparative Genomic Hybridization Analysis ◽  
Conventional Cytogenetic Analysis ◽  
Intellectual Function ◽  
Important Health ◽  
Significant Impairment ◽  
Azf Region

Infertility is an important health problem affecting 15% of couples worldwide. Intellectual disability (ID) is characterized with significant impairment of intellectual function, adaptive daily life skills and social skills. Insertion is a rare chromosomal rearrangement causing infertility and ID. Here, we report a 39-year-old man presenting with primary infertility and mild ID. The patient’s spermiogram was consistent with azoospermia. Conventional cytogenetic analysis showed a novel inversion/insertion type of chromosomal aberration involving chromosomes 18 and 2: 46, XY, inv ins(18;2)(q11.2;q13q22). We carried out the array comparative genomic hybridization analysis to confirm the cytogenetic findings. Y micro-deletion analysis demonstrated that the AZF region as intact. We suggest that the novel insertion found in this case [46, XY, inv ins(18;2)(q11.2;q13q22)] may have caused infertility and mild ID in our patient. To the best of our knowledge, this chromosomal insertion has not previously been reported.

scholarly journals An Interstitial 20q11.21 Microdeletion Causing Mild Intellectual Disability and Facial Dysmorphisms

2013 ◽  
Vol 2013 ◽  
pp. 1-5 ◽  
Author(s):  
Ivan Y. Iourov ◽  
Svetlana G. Vorsanova ◽  
Oxana S. Kurinnaia ◽  
Yuri B. Yurov
Keyword(s):  
Intellectual Disability ◽  
Single Gene ◽  
Index Patient ◽  
Genomic Region ◽  
Comparative Genomic ◽  
Mild Intellectual Disability ◽  
Present Case Report ◽  
Facial Dysmorphisms ◽  
Genomic Variations ◽  
Opitz Syndrome

We report a case of an interstitial chromosome 20q11.21 microdeletion in a 7-year-old male child presenting with mild intellectual disability and facial dysmorphisms. Array comparative genomic hybridization (CGH) has shown that the deletion resulted in the loss of 68 genes, among which 5 genes (COX4I2,MYLK2,ASXL1,DNMT3B, andSNTA1) are disease causing. The size of the deletion was estimated to span 2.6 Mb. Only three cases of deletions encompassing this chromosomal region have been reported. The phenotype of the index patient was found to resemble the mildest cases of Bohring-Opitz syndrome that is caused byASXL1mutations. Anin silicoevaluation of the deleted genomic region has shown that benign genomic variations have never been observed to affect theASXL1gene, in contrast to the other disease-causing genes. As a result, it was suggested thatASXL1loss is likely to be the main cause of the phenotypic manifestations. The present case report indicates that a loss of the disease-causing gene can produce a milder phenotype of a single gene condition.

scholarly journals A 9-year-old-girl with Phelan McDermid Syndrome, who had been diagnosed with an autism spectrum disorder

2016 ◽  
Vol 19 (2) ◽  
pp. 85-90 ◽  
Author(s):  
I Görker ◽  
H Gürkan ◽  
S Demir Ulusal ◽  
E Atlı ◽  
E Ikbal Atlı
Keyword(s):  
Autism Spectrum Disorder ◽  
Intellectual Disability ◽  
De Novo ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Comparative Genomic ◽  
Parental Origin ◽  
Mild Intellectual Disability ◽  
First Case

AbstractPhelan McDermid Syndrome (PHMDS) (OMIM #606232), is a contiguous gene disorder resulting from deletion of the distal long arm of chromosome 22. The 22q13.3 deletions and mutations that lead to a loss of a functional copy of SHANK3 (OMIM *606230) cause the syndrome, characterized by moderate to profound intellectual disability, severely delayed or absent speech, hypotonia, and autism spectrum disorder (ASD) or ASD traits. In this study, we present the case of a 9-year-old girl who had earlier been diagnosed with an ASD. Our findings were a clinically mild intellectual disability, rounded face, pointed chin but no autistic findings. We learned that her neuromotor development was delayed and she had neonatal hypotonia in her history. A heterozygous deletion of MLC1, SBF1, MAPK8IP2, ARSA, SHANK3 and ACR genes, located on 22q13.33, was defined by multiplex ligation-dependent probe amplification (MLPA). Deletion of 22q13.3 (ARSA) region was confirmed by a fluorescent in situ hybridization (FISH) technique. The 22q13.3 deletion was found to be de novo in our patient, and she was diagnosed with PHMDS. We confirmed the 22q13.3 deletion and also determined a gain of 8p23.3-23.2 by array comparative genomic hybridization (aCGH). Fluorescent in situ hybridization was performed to determine whether the deletion was of parental origin and to identify regions of chromosomes where the extra 8p may have been located. The parents were found to be normal. The extra copy of 8p was observed on 22q in the patient. She is the first case reported in association with the 22q deletion of 8p duplications in the literature.

scholarly journals 16p11.2 Duplication Syndrome - a Case Report

Folia Medica ◽  
2021 ◽  
Vol 63 (1) ◽  
pp. 138-141
Author(s):  
Mariya Levkova ◽  
Milena Stoyanova ◽  
Rada Staneva ◽  
Mari Hachmeriyan ◽  
Lyudmila Angelova
Keyword(s):  
Intellectual Disability ◽  
Intellectual Development ◽  
Comparative Genomic ◽  
Facial Dysmorphism ◽  
Comparative Genomic Hybridization Analysis ◽  
Genetic Condition ◽  
Autistic Behavior ◽  
Hyperactivity Disorder ◽  
Whole Exome ◽  
Duplication Syndrome

16p11.2 duplication syndrome is a rare disorder, often associated with intellectual disability, attention deficit, hyperactivity disorder, and a predisposition to epilepsy and schizophrenia. There are no specific dysmorphic features for this genetic condition, but micro-cephaly, micrognathia and hypertelorism could be present. We report a case of 16p11.2 duplication syndrome which has the typical clinical presentation – slight facial dysmorphism, impaired intellectual development, and autistic behavior. Whole-exome sequencing was performed, but no pathogenic or likely pathogenic mutations were identified. Array comparative genomic hybridization analysis established the diagnosis of 16p11.2 duplication syndrome, which illustrates the importance of this method when diagnosing children with unexplained intellectual disability. 

scholarly journals Rare case of a heterozygous microdeletion 9q21.11-q21.2: Clinical and genetic characteristics

2018 ◽  
Vol 21 (2) ◽  
pp. 59-62
Author(s):  
HY Ivanov ◽  
V Stoyanova ◽  
I Ivanov ◽  
A Linev ◽  
R Vazharova ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Neurodevelopmental Disorders ◽  
De Novo ◽  
Marker Chromosome ◽  
Snp Array ◽  
Autism Spectrum ◽  
Diagnostic Tools ◽  
Comparative Genomic ◽  
Mild Intellectual Disability ◽  
Genetic Characteristics

Abstract Intellectual disability is affecting 3.0-4.0% of the general population. Copy number variants (CNVs) are a significant cause leading to neurodevelopmental disorders such as intellectual disability, epilepsy, autism spectrum disorders and developmental delay. The use of single nucleotide polymorphism (SNP)-array and array comparative genomic hybridization (aCGH) as diagnostic tools has led to the recognition of new microdeletion/microduplication syndromes associated with neurodevelopmental disorders. It is also useful for further characterization of marker chromosomes. Here, we report a girl with mild intellectual disability and mild facial dysmorphisms. Cytogenetic analysis showed a marker chromosome in some percent of the cells and was followed by SNP-array karyotyping that detected, in addition, a 9655 Mb de novo interstitial deletion at 9q21.1-9q21.2.

ДИАГНОСТИКА ХРОНИЧЕСКИХ ИНДУЦИРОВАННЫХ КРАПИВНИЦ

2019 ◽  
pp. 5-13
Author(s):  
E.Yu. Borzova
Keyword(s):  
Quality Of Life ◽  
Biological Therapy ◽  
Treatment Algorithm ◽  
The Novel ◽  
International Guidelines ◽  
Systemic Reactions ◽  
Significant Impairment ◽  
Challenge Tests

Хронические индуцированные крапивницы имеют важное социальноэкономическое значение вследствие риска развития системных реакций и значительного снижения качества жизни пациентов. Диагностика хронических индуцированных крапивниц основывается на анамнестических данных и проведении провокационных тестов. Современный протокол ведения больных хронической крапивницей включает применение неседативных антигистаминных препаратов. Международные согласительные документы по лечению крапивницы рекомендуют 4кратное увеличение суточной дозы неседативных антигистаминных препаратов при их неэффективности в стандартных дозах. Данные метаанализа указывают на эффективность омализумаба при хронических индуцированных крапивницах. В перспективе ожидается расширение арсенала генноинженерной биологической терапии хронических индуцированных крапивниц.Chronic inducible urticarias are characterized by the risks of systemic reactions and a significant impairment of patients quality of life. The diagnosis of chronic inducible urticarias relies on the patients history and the challenge tests. A treatment algorithm for the management of chronic inducible urticarias includes nonsedating antihistamines as a firstline treatment. The international guidelines for the management of chronic inducible urticarias recommend updosing of nonsedating antihistamines up to four fold if standard doses are not effective. The metaanalysis suggests the efficacy of omalizumab in chronic inducible urticarias. In the prospect, the novel options of biological therapy for chronic inducible urticarias are expected.

ДИАГНОСТИКА ХРОНИЧЕСКИХ ИНДУЦИРОВАННЫХ КРАПИВНИЦ

2019 ◽  
Author(s):  
E.Yu. Borzova
Keyword(s):  
Biological Therapy ◽  
Meta Analysis ◽  
Treatment Algorithm ◽  
The Novel ◽  
First Line ◽  
Systemic Reactions ◽  
Significant Impairment ◽  
Challenge Tests ◽  
First Line Treatment

Хронические индуцированные крапивницы имеют важное социально-экономическое значение вследствие риска развития системных реакций и значительного снижения качества жизни пациентов. Диагностика хронических индуцированных крапивниц основывается на анамнестических данных и проведении провокационных тестов. Современный протокол ведения больных хронической крапивницей включает применение неседативных антигистаминных препаратов. Международные согласительные документы по лечению крапивницы рекомендуют 4-кратное увеличение суточной дозы неседативных антигистаминных препаратов при их неэффективности в стандартных дозах. Данные мета-анализа указывают на эффективность омализумаба при хронических индуцированных крапивницах. В перспективе ожидается расширение арсенала генно-инженерной биологической терапии хронических индуцированных крапивниц.Chronic inducible urticarias are characterized by the risks of systemic reactions and a significant impairment of patients quality of life. The diagnosis of chronic inducible urticarias relies on the patients history and the challenge tests. A treatment algorithm for the management of chronic inducible urticarias includes nonsedating antihistamines as a first-line treatment. The international guidelines for the management of chronic inducible urticarias recommend updosing of nonsedating antihistamines up to four fold if standard doses are not effective. The meta-analysis suggests the efficacy of omalizumab in chronic inducible urticarias. In the prospect, the novel options of biological therapy for chronic inducible urticarias are expected.

scholarly journals Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

2021 ◽  
Author(s):  
Meena Balasubramanian ◽  
Alexander J. M. Dingemans ◽  
Shadi Albaba ◽  
Ruth Richardson ◽  
Thabo M. Yates ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Protein Function ◽  
Autism Spectrum ◽  
Loss Of Function ◽  
Mild Intellectual Disability ◽  
Related Disorder ◽  
Feeding Difficulties ◽  
Facial Phenotype ◽  
Novel Variants ◽  
Common Behaviour

AbstractWitteveen-Kolk syndrome (OMIM 613406) is a recently defined neurodevelopmental syndrome caused by heterozygous loss-of-function variants in SIN3A. We define the clinical and neurodevelopmental phenotypes related to SIN3A-haploinsufficiency in 28 unreported patients. Patients with SIN3A variants adversely affecting protein function have mild intellectual disability, growth and feeding difficulties. Involvement of a multidisciplinary team including a geneticist, paediatrician and neurologist should be considered in managing these patients. Patients described here were identified through a combination of clinical evaluation and gene matching strategies (GeneMatcher and Decipher). All patients consented to participate in this study. Mean age of this cohort was 8.2 years (17 males, 11 females). Out of 16 patients ≥ 8 years old assessed, eight (50%) had mild intellectual disability (ID), four had moderate ID (22%), and one had severe ID (6%). Four (25%) did not have any cognitive impairment. Other neurological symptoms such as seizures (4/28) and hypotonia (12/28) were common. Behaviour problems were reported in a minority. In patients ≥2 years, three were diagnosed with Autism Spectrum Disorder (ASD) and four with Attention Deficit Hyperactivity Disorder (ADHD). We report 27 novel variants and one previously reported variant. 24 were truncating variants; three were missense variants and one large in-frame gain including exons 10–12.

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