An Interesting and Unique Case of 8p23.3p23.1 Deletion and 8p23.1p11.1 Interstitial Duplication Syndrome [0.03%]
8p23.3pter deletion和8p23.1p11.1重复综合征的一个有趣且独特的病例报告
Vivek Kumar,Shuvendu Roy,Gaurav Kumar
Vivek Kumar
We report an interesting case of a male toddler with global developmental delay, dysmorphic facies, seizures, and acyanotic heart disease. Detailed evaluation revealed absent corpus callosum with large doubly committed ventricular septal de...
Multiple Hereditary Exostoses: Report of an EXT2 Gene Mutation in a Colombian Family [0.03%]
哥伦比亚家族中发生外生骨瘤的EXT2基因突变报告
Jhon Camacho,Luz Dary Gutierrez,Cladelis Rubio et al.
Jhon Camacho et al.
Multiple hereditary exostoses (MHE) is a rare disease with autosomal dominant inheritance, caused by heterozygous germline mutations in the EXT1 or EXT2 genes. This disorder is characterized by the growth of prominences surrounded by cartil...
A Case of Shwachman-Diamond Syndrome who Presented with Hypotonia [0.03%]
低张力儿/Shwachman-Diamond综合征病例报告
Zeren Barış,Figen Özçay,Lale Olcay et al.
Zeren Barış et al.
We present a patient with failure to thrive and severe hypotonia, who was initially suspected of having a neurometabolic disease but later diagnosed as Shwachman-Diamond syndrome (SDS), which was genetically confirmed. SDS is a multisystemi...
Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A [0.03%]
KAT6A truncating突变引起的发作性运动障碍和癫痫
Stephanie Efthymiou,Vincenzo Salpietro,Conceicao Bettencourt et al.
Stephanie Efthymiou et al.
Mutations in KAT6A encoding a histone acetyltransferase involved in chromatin remodeling and in other genes involved in histone acetylation and/or deacetylation have been implicated in broad phenotypes of congenital and developmental abnorm...
Oxidative Stress and Polymorphism in MTHFR SNPs (677 and 1298) in Paternal Sperm DNA is Associated with an Increased Risk of Retinoblastoma in Their Children: A Case-Control Study [0.03%]
父亲精子中MTHFR基因多态性及氧化应激与子女视网膜母细胞瘤发病风险增加相关：一项病例对照研究
Shilpa Bisht,Bhavna Chawla,Rima Dada
Shilpa Bisht
Sperm DNA is considered as the most vulnerable to oxidative stress-induced damage that also impairs global sperm DNA methylation leading to sperm-associated pathologies. C677T and A1298C polymorphisms of the methylene tetrahydrofolate reduc...
Identification of Two Novel Mutations in Aminomethyltransferase Gene in Cases of Glycine Encephalopathy [0.03%]
甘氨酸脑病患者氨甲基转移酶基因的两个新型突变鉴定
Akella Radha Rama Devi,Lokesh Lingappa,Shaik Mohammad Naushad
Akella Radha Rama Devi
In this study, we report three cases of nonketotic hyperglycinemia (NKHG) diagnosed biochemically and molecularly. Clinical exome analysis in two families revealed two novel mutations in the aminomethyltransferase (AMT) gene, that is, c.14_...
Oral-Facial-Digital Syndrome Type 1: Oral Findings in a 6-Year-Old Girl [0.03%]
口腔面部数字综合征一期：六岁女孩的口腔表现
Zuhal Kırzıoglu,Esra Oz
Zuhal Kırzıoglu
Oral-facial-digital syndrome (OFDS) is a group of congenital anomalies with 13 different forms. OFDS type 1 (OFDS1) is a developmental genetic anomaly related to the X chromosome, that is often seen in girls, and affects the face, oral cavi...
Case Report of Proliferative Peripheral Retinopathy in Two Familial Lissencephaly Infants with Miller-Dieker Syndrome [0.03%]
两例米勒-迪克尔综合征家系患儿增生性周边视网膜病变的病例报告
Omar Shoukfeh,Alan B Richards,Leonard A Prouty et al.
Omar Shoukfeh et al.
A complete ophthalmic examination is not routinely performed on infants with Miller-Dieker syndrome (MDS, chromosome 17p13.3 microdeletion). The authors present the cases of four cousins with MDS who also carried a 16p13.3 microduplication ...
A 2-Year-Old Child with Bilateral Ectopis Lentis and a Novel FBN1 Gene Variant Cys129Ser [0.03%]
晶体脱位的马凡综合征患儿一例
Ahmed N Mohammad,Paldeep S Atwal
Ahmed N Mohammad
Marfan syndrome and dominant ectopia lentis are part of type 1 fibrillinopathies that are caused by FBN1 pathogenic variants. Making a diagnosis could be challenging due to the clinical overlap between these disorders. The revised Ghent cri...
Juvenile Idiopathic Arthritis Associated with Combined JP-HHT Syndrome: A Novel Phenotype Associated with a Novel Variant in SMAD4 [0.03%]
与JP-HHT综合征相关的幼年特发性关节炎：SMAD4的新变异引起的新型表型
Juliet Chhay Bishop,Jacquelyn Francis Britton,Anne M Murphy et al.
Juliet Chhay Bishop et al.
Juvenile polyposis (JP) syndrome is characterized by multiple hamartomatous polyps of the gastrointestinal tract. Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia characterized by telangiectasia in the skin, mucous membra...