De Novo Inverted Duplication Deletion of 4p in a 14-Week-Old Male Fetus Aborted Due to Multiple Anomalies [0.03%]
一名因存在多种畸形而被终止妊娠的14周男胎4号染色体短臂串联重复缺失的新发倒位 duplication deletion 的检测报告
Paolo Fontana,Laura Bernardini,Cinzia Lombardi et al.
Paolo Fontana et al.
Inverted duplications deletions are rare, complex, and nonrecurrent chromosomal rearrangements associated with a variable phenotype. In this case report, we described the phenotype and genotype of a 14-week-old male fetus, who was aborted a...
17p13.3 Microduplication Syndrome: Further Delineating the Clinical Spectrum [0.03%]
17p13.3微重复综合征的临床谱系特征进一步研究
Chantal Farra,Lina Abdouni,Abeer Hani et al.
Chantal Farra et al.
17p13.3 microduplication syndrome has been associated with a clinical spectrum of phenotypes, and depending on the genes involved in the microduplication, it is categorized into two classes (Class I and Class II). We herein, describe two pa...
Complex Neurological Phenotype Associated with a De Novo DHDDS Mutation in a Boy with Intellectual Disability, Refractory Epilepsy, and Movement Disorder [0.03%]
DHDDS新发突变致一例智力障碍、难治性癫痫和运动障碍的复杂神经表型病例报告
Gianluca Piccolo,Elisabetta Amadori,Maria Stella Vari et al.
Gianluca Piccolo et al.
Mutations in the DHDDS gene (MIM: 617836), encoding a subunit of dehydrodolichyl diphosphate synthase complex, have been recently implicated in very rare neurodevelopmental diseases. In total, five individuals carrying two de novo mutations...
Familial Hypomagnesemia with Hypercalciuria, Nephrocalcinosis, and Bilateral Chorioretinal Atrophy in a Patient with Homozygous p.G75S Variant in CLDN19 [0.03%]
CLDN19基因同型p.G75S变异体患者的家族性低镁血症、高钙尿症、肾钙质沉着症和双眼脉络膜视网膜萎缩
Nasim Rahmani,Saeed Talebi,Nakysa Hooman et al.
Nasim Rahmani et al.
Introduction Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare disorder caused by perturbation in renal reabsorption of magnesium and calcium. Biallelic pathogenic variants either in gene CLDN16 or CLDN19 ar...
Klinefelter's Syndrome with Maternal Uniparental Disomy X, Interstitial Xp22.31 Deletion, X-linked Ichthyosis, and Severe Central Nervous System Regression [0.03%]
母系单亲二倍体X染色体、Xp22.31中间缺失、X连锁鱼鳞病和严重的中枢神经系统退化的克兰费尔特综合征病例报告
Jennifer Brault,Laurence Walsh,Gail H Vance et al.
Jennifer Brault et al.
We presented in this article a patient with Klinefelter syndrome (KS) (47,XXY) who had maternal nondisjunction and uniparental disomy of the X chromosome with regions of heterodisomy and isodisomy, an interstitial Xp22.31 deletion of both X...
Clinical Characteristics, Molecular Profile, and Outcomes in Indian Patients with Glutaric Aciduria Type 1 [0.03%]
印度戊二酸尿症Ⅰ型患者的临床特征、分子分型和预后研究
Parag M Tamhankar,Lakshmi Vasudevan,Pratima Kondurkar et al.
Parag M Tamhankar et al.
Glutaric acidemia type 1 (GA-1, OMIM 231670) is an autosomal recessive inborn error of metabolism caused by the deficiency of glutaryl-coenzyme A (CoA) dehydrogenase with most children presenting in infancy with encephalopathy, dystonia, an...
Profile of Indian Children with Childhood Ataxia and Central Nervous System Hypomyelination/Vanishing White Matter Disease: A Single Center Experience from Southern India [0.03%]
印度南部单中心儿童小脑萎缩和中枢神经系统寡髓鞘疾病/白质消失疾病的临床特点：一项单中心研究
Vykuntaraju K Gowda,Varunvenkat M Srinivasan,Balamurugan Nagarajan et al.
Vykuntaraju K Gowda et al.
Background Childhood ataxia with central nervous system hypomyelination (CACH) is a recently described childhood inherited white matter disease, caused by mutations in any of the five genes encoding eukaryotic translation initiation factor ...
Sonali Malhotra,Ramya Sivasubramanian,Gitanjali Srivastava
Sonali Malhotra
One in five children and adolescents in the United States are diagnosed with obesity and nearly 6% of them are being classified under the severe obesity category. With over 7% of severe obesity being attributed to genetic disorders, in this...
Monogenic Syndromes with Congenital Heart Diseases in Newborns (Diagnostic Clues for Neonatologists): A Critical Analysis with Systematic Literature Review [0.03%]
新生儿单基因综合征性先天性心脏病的诊断线索（针对新生儿医师的批判分析及系统文献回顾）
Raffaele Falsaperla,Valentina Giacchi,Maria Giovanna Aguglia et al.
Raffaele Falsaperla et al.
Congenital heart disease (CHD), the most common major congenital anomaly, is associated with a genetic syndrome (chromosomal anomalies, genomic disorders, or monogenic disease) in 30% of patients. The aim of this systematic review was to ev...
A Novel c.968C > T homozygous Mutation in the Polynucleotide Kinase 3' - Phosphatase Gene Related to the Syndrome of Microcephaly, Seizures, and Developmental Delay [0.03%]
多核苷酸激酶3'-磷酸酶基因的c.968C>T纯合子变异与小头畸形、癫痫和发育迟缓综合征相关的新发现
Carlos Marcilla Vázquez,María Del Carmen Carrascosa Romero,Andrés Martínez Gutiérrez et al.
Carlos Marcilla Vázquez et al.
Microcephaly is defined by a head circumference that is at least two standard deviations below the mean for age and sex of the general population in a specific race. Primary microcephaly may occur as an isolated inborn error, which may dama...