Case Reports in Genetics最新文献_第10页

Towards New Approaches to Evaluate Dynamic Mosaicism in Ring Chromosome 13 Syndrome. 探讨13号染色体环型综合征动态嵌合现象的新方法。

Case Reports in Genetics Pub Date : 2019-12-28 eCollection Date: 2019-01-01 DOI: 10.1155/2019/7250838

Cristian Petter, Lilia Maria Azevedo Moreira, Mariluce Riegel

{"title":"Towards New Approaches to Evaluate Dynamic Mosaicism in Ring Chromosome 13 Syndrome.","authors":"Cristian Petter, Lilia Maria Azevedo Moreira, Mariluce Riegel","doi":"10.1155/2019/7250838","DOIUrl":"https://doi.org/10.1155/2019/7250838","url":null,"abstract":"Individuals with ring chromosome 13 may show characteristics observed in a deletion syndrome and could present a set of dismorphies along with intellectual disability, according to chromosomal segments involved in the genetic imbalance. Nevertheless, ring anomalies likewise is called \"dynamic mosaicism\", phenomena triggered by the inner instability concerning the ring structure, thus leading to the establishment of different cell clones with secondary aberrations. Phenotypic features, such as growth failure and other anomalies in patients with this condition have been associated with an inherent ring chromosome mitotic instability, while recent studies offer evidence on a role played by the differential loss of genes implicated in development. Here, we observed similar mosaicism rates and specific gene loss profile among three individuals with ring chromosome 13 using GTW-banding karyotype analyses along with FISH and CGH-array approaches. Karyotypes results were: patient 1-r(13)(p13q32.3), patient 2-r(13)(p11q33.3), and patient 3-r(13)(p12q31.1). Array-CGH has revealed qualitative genetic differences among patients in this study and it was elusive in precise chromosomal loss statement, ranging from 13 Mb, 6.8 Mb, and 30 Mb in size. MIR17HG and ZIC2 loss was observed in a patient with digital anomalies, severe growth failure, microcephaly and corpus callosum agenesis while hemizygotic EFNB2 gene loss was identified in two patients, one of them with microphtalmia. According to these findings, it can be concluded that specific hemizygotic loss of genes related to development, more than dynamic mosaicism, may be causative of congenital anomalies shown in patients with ring 13 chromosome.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2019 ","pages":"7250838"},"PeriodicalIF":0.0,"publicationDate":"2019-12-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2019/7250838","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37574504","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 3

Familial Russell-Silver Syndrome like Phenotype in the PCNA Domain of the CDKN1C Gene, a Further Case. 家族性罗素-银综合征样表型在CDKN1C基因的PCNA结构域，一个新的案例。

Case Reports in Genetics Pub Date : 2019-12-22 eCollection Date: 2019-01-01 DOI: 10.1155/2019/1398250

A H Sabir, G Ryan, Z Mohammed, J Kirk, N Kiely, M Thyagarajan, T Cole

{"title":"Familial Russell-Silver Syndrome like Phenotype in the PCNA Domain of the CDKN1C Gene, a Further Case.","authors":"A H Sabir, G Ryan, Z Mohammed, J Kirk, N Kiely, M Thyagarajan, T Cole","doi":"10.1155/2019/1398250","DOIUrl":"https://doi.org/10.1155/2019/1398250","url":null,"abstract":"We present two half siblings with significant short stature who proved a diagnostic challenge for several years. Radiological findings included subtle epiphyseal changes. The diagnosis was made through whole genome sequencing via the 100,000 genome project. A maternally inherited pathogenic heterozygous CDKN1C variant was found in the PCNA (proliferating cell nuclear antigen) domain. Mutations of the PCNA domain of the CDKN1C gene are known to be associated with IMAGe syndrome thus with adrenal disease, although neither affected patient in our case had evidence of adrenal dysfunction. This report supports the previously reported findings of Russell-Silver syndrome (RSS) like phenotype caused by this unusual mechanism (CDKN1C mutations in the PCNA domain), highlights subtle radiological features not described previously and the phenotypic variability between two affected siblings. Additionally it reminds clinicians of the importance of considering associated adrenal disease/diabetes mellitus for variants within the PCNA domain. Finally it confirms RSS-like disorders should be considered in patients who have epiphyseal or metaphyseal changes and short stature, since CDKN1C PCNA domain mutations can result in this phenotype.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2019 ","pages":"1398250"},"PeriodicalIF":0.0,"publicationDate":"2019-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2019/1398250","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37574503","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 10

Corrigendum to "Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features". 更正“染色体3p倒置重复与末端缺失:第二个产后病例报告与额外的临床特征”。

Case Reports in Genetics Pub Date : 2019-11-24 eCollection Date: 2019-01-01 DOI: 10.1155/2019/4361630

Jacquelyn D Riley, Catherine M Stefaniuk, Francine Erenberg, Angelika L Erwin, Lauren Palange, Caroline Astbury

引用次数: 0

Two Novel Variants in the ATRX Gene Associated with Variable Phenotypes 与可变表型相关的ATRX基因的两个新变体

Case Reports in Genetics Pub Date : 2019-11-06 DOI: 10.1155/2019/2687595

D. Hettiarachchi, B. A. P. S. Pathirana, P. Kumarasiri, V. Dissanayake

引用次数: 1

Case of Inherited Partial AZFa Deletion without Impact on Male Fertility 不影响男性生育能力的遗传性AZFa部分缺失病例

Case Reports in Genetics Pub Date : 2019-10-31 DOI: 10.1155/2019/3802613

B. Alkšere, D. Bērziņa, A. Dudorova, U. Conka, S. Andersone, E. Pimane, S. Krasucka, Arita Blumberga, A. Dzalbs, I. Grīnfelde, N. Vedmedovska, V. Fodina, J. Ērenpreiss

引用次数: 4

Parallel Multi-Gene Panel Testing for Diagnosis of Idiopathic Hypogonadotropic Hypogonadism/Kallmann Syndrome 平行多基因面板检测诊断特发性促性腺功能减退/卡尔曼综合征

Case Reports in Genetics Pub Date : 2019-10-27 DOI: 10.1155/2019/4218514

M. Senthilraja, A. Chapla, F. Jebasingh, Dukhabhandhu Naik, T. Paul, N. Thomas

引用次数: 2

Resolving a Multi-Generational Neuromuscular Mystery in a Family Presenting with a Variable Scapuloperoneal Syndrome in a c.464G>A, p.Arg155His VCP Mutation. 解决一个在c.464G>a，p.Arg155His VCP突变中出现可变肩胛骨综合征的家族中的多代神经肌肉之谜。

Case Reports in Genetics Pub Date : 2019-10-09 eCollection Date: 2019-01-01 DOI: 10.1155/2019/2403024

Nivedita U Jerath

引用次数: 5

Identifying a Novel DPYD Polymorphism Associated with Severe Toxicity to 5-FU Chemotherapy in a Saudi Patient 在沙特患者中鉴定与5-FU化疗严重毒性相关的新型DPYD多态性

Case Reports in Genetics Pub Date : 2019-08-21 DOI: 10.1155/2019/5150725

N. Bukhari, F. Azam, M. Alfawaz, M. Zahrani

引用次数: 6

Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome. 一个Gorlin综合征家族中导致三代脑膜瘤的新型SUFU移框变体。

Case Reports in Genetics Pub Date : 2019-07-28 eCollection Date: 2019-01-01 DOI: 10.1155/2019/9650184

Gustav Askaner, Ulrikke Lei, Birgitte Bertelsen, Alessandro Venzo, Karin Wadt

引用次数: 8

Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features 染色体3p倒置重复与末端缺失:第二个产后病例报告与额外的临床特征

Case Reports in Genetics Pub Date : 2019-07-25 DOI: 10.1155/2019/5384295

Jacquelyn D Riley, C. Stefaniuk, F. Erenberg, Angelika L Erwin, Lauren Palange, C. Astbury

{"title":"Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features","authors":"Jacquelyn D Riley, C. Stefaniuk, F. Erenberg, Angelika L Erwin, Lauren Palange, C. Astbury","doi":"10.1155/2019/5384295","DOIUrl":"https://doi.org/10.1155/2019/5384295","url":null,"abstract":"Distal deletions and duplications of 3p are individually well-characterized chromosome abnormalities. Here, we report an inverted duplication of 3p with an adjacent terminal 3p deletion in a 17-month-old girl who had prenatal intrauterine growth restriction and cardiac defects. Other findings included hemangiomas, neutropenia, umbilical hernia, hypotonia, gross motor delay, microcephaly, and ptosis. Family history was noncontributory. Microarray analysis revealed a 5.37 Mb deletion of chromosome bands 3p26.1 to 3p26.3 and a 13.68 Mb duplication of 3p24.3 to 3p26.1. FISH analysis confirmed that the duplication was inverted. Upon literature review, only one postnatal patient and one second trimester pregnancy have been reported with this finding. Many of our patient's features are present in both 3p deletion and 3p duplication syndromes, including congenital heart disease, growth restriction, microcephaly, hypotonia, and developmental delay. Our patient has additional features not commonly reported in 3p deletion or duplication patients, such as aortic dilation, hemangiomas, and neutropenia. The identification of this patient contributes to additional understanding of features associated with concurrent deletion and inverted duplication in the distal 3p chromosome. This report may assist clinicians working with patients who have constellations of similar features or similar cytogenomic abnormalities.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"4 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85316267","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2