A Rare Combination of Functional Disomy Xp, Deletion Xq13.2-q28 Spanning the XIST Gene, and Duplication 3q25.33-q29 in a Female with der(X)t(X;3)(q13.2;q25.33) [0.03%]
一条X染色体长臂远端区域缺失和近端区域功能三体型伴3号染色体部分重复的女性患者的临床表型及遗传特征分析: XIST基因位于缺失区内
Jess F Peterson,Donald G Basel,David P Bick et al.
Jess F Peterson et al.
We report a 19-year-old female patient with a history of short stature, primary ovarian insufficiency, sensorineural hearing loss, sacral teratoma, neurogenic bladder, and intellectual disability with underlying mosaicism for der(X)t(X;3)(q...
No Association of Genetic Markers with Carotid Intimal Medial Thickness in β-Thalassemia Major Patients [0.03%]
重型β地中海贫血患者遗传标志物与颈动脉内膜中层厚度无关
Mable Misha Singh,Ravindra Kumar,Satyendra Tewari et al.
Mable Misha Singh et al.
Regular transfusion leads to cardiac siderosis resulting in cardiac complications that account for more than 71% of the total mortality in thalassemia patients. We aimed to study the variants of matrix metalloproteinase-9 (MMP9), matrix Gla...
Cathepsin D Polymorphism C224T in Childhood-Onset Neurodegenerative Disorders: No Impact for Childhood Dementia [0.03%]
溶酶体蛋白酶 Cathepsin D 基因多态性 C224T 与儿童痴呆无关
Matthias Kettwig,Andreas Ohlenbusch,Klaus Jung et al.
Matthias Kettwig et al.
Compromised lysosomal functioning has been identified as a major risk factor for neurodegenerative disorders such as Alzheimer's and Parkinson's diseases. Furthermore, the association between a defined cathepsin D ( CTSD ) polymorphism and ...
Pycnodysostosis: Novel Variants in CTSK and Occurrence of Giant Cell Tumor [0.03%]
CTSK新变异与巨细胞瘤发生的吡考多伊佐斯症
Arya Shambhavi,Smrithi Salian,Hitesh Shah et al.
Arya Shambhavi et al.
Pycnodysostosis is an autosomal recessive skeletal dysplasia caused by pathogenic variants in the cathepsin K ( CTSK ) gene. We report seven patients from four unrelated families with this condition in whom we have identified three novel pa...
Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics [0.03%]
综合征性听力损失：常见临床表现及遗传学简介
John D Gettelfinger,John P Dahl
John D Gettelfinger
Congenital hearing loss is one of the most common birth defects worldwide, with around 1 in 500 people experiencing some form of severe hearing loss. While over 400 different syndromes involving hearing loss have been described, it is impor...
Shwetha Kuthiroly,Dhanya Yesodharan,Aneesh Ghosh et al.
Shwetha Kuthiroly et al.
Osteoglophonic dysplasia (OD) is an extremely rare, skeletal dysplasia with an autosomal dominant mode of inheritance. Rhizomelic dwarfism, craniosynostosis, impacted teeth, hypodontia or anodontia, and multiple nonossifying bone lesions ar...
A Peruvian Child with 18p-/18q+ Syndrome and Persistent Microscopic Hematuria [0.03%]
一个患有18p-／18q+综合征并伴有持续性镜下血尿的秘鲁儿童
Julio A Poterico,Flor Vásquez,Miguel Chávez-Pastor et al.
Julio A Poterico et al.
Chromosome 18 pericentric inversion carriers could have offspring with recombinant chromosomes, leading to patients with clinical variable manifestations. Patients with 18p-/18q+ rearrangements share some clinical characteristics, while oth...
Placental Teratoma, Omphalomesenteric Duct Remnant, or Intestinal Organoid (Enteroid) Differentiation: A Diagnostic Dilemma [0.03%]
胎盘畸胎瘤、脐肠系膜管残余或肠道类器官(肠样体)分化：一个诊断难题
Salwa Khedr,Tarek Jazaerly,Stefan Kostadinov
Salwa Khedr
We report an unusual case of fully developed fetal intestinal segment(s) within a nodule on the chorionic plate of the placenta of a 27-year-old female patient at 37 weeks gestation with spontaneous vaginal delivery. Gross examination of th...
Dhanya Yesodharan,Bindu Sudarsanan,Annie Jojo et al.
Dhanya Yesodharan et al.
The most frequent genital presentation of neurofibromatosis in females is clitoromegaly. We report a case of a 5-year-old girl with neurofibromatosis type 1 with clitoral plexiform neurofibromatosis. Clitoroplasty was done, and the histopat...
Sevcan Tug Bozdogan,Atil Bisgin
Sevcan Tug Bozdogan
Down's syndrome has its own dysmorphic findings and is accompanied by mental retardation and hypotonia. Klinefelter's syndrome is a syndrome caused by a numerical abnormality that affects male physical and cognitive development. This case r...