Demographic Composition of Participants in Sex Chromosome Aneuploidy Studies Across the Globe: A 20-Year Systematic Review [0.03%]
全球性染色体非整倍体研究的参与者的人口统计构成：一项为期20年的系统评价
Karli S Swenson,Samantha Bothwell,Anastasia Zhivotov et al.
Karli S Swenson et al.
Sex chromosome aneuploidies (SCAs), including Klinefelter syndrome (47,XXY), Turner syndrome (45,X), XYY syndrome, trisomy X (47,XXX), and rarer tetrasomies and pentasomies, affect approximately 1 in 400 births and are associated with a wid...
GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome [0.03%]
与幼年特发性关节炎相关的GATA3基因缺失：Hypoparathyroidism、Sensorineural聋和肾发育不全综合征（HDR综合症）的临床表型扩展
Lauren N Meiss,Amanda V Karam,Julia Shalen et al.
Lauren N Meiss et al.
Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10-year-old girl with HDR syndrome who also has oligoarticular ...
Two Novel Pediatric Cases of EIF4A2-Related Disorder With Refractory Infantile Spasms [0.03%]
两个与EIF4A2有关的婴儿痉挛难治性病例报告
Joseph Painter,Dmitriy Niyazov,Jeffrey B Russ
Joseph Painter
With the rapid adoption and increasing use of genetic testing in pediatric neurology, the discovery and characterization of novel pathogenic variants resulting in neurodevelopmental and seizure disorders are becoming more common. One such d...
Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia-FGFR2-Related [0.03%]
与FGFR2相关的弯曲骨发育不良的最长生存期患者的临床表现
Cheyenne Bates,Pardeep Gill,Matthew Choi et al.
Cheyenne Bates et al.
The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2-related (MIM# 614592), is a rare severe skeletal dysplasia characterized by cranio...
Delineating the Adult Phenotype of PGM2L1-Related Neurodevelopmental Disorder [0.03%]
PGM2L1相关神经发育障碍成人表型的界定
Pelin Ercoskun,Ekrem Akbulut,Cuneyd Yavas et al.
Pelin Ercoskun et al.
PGM2L1 is a crucial enzyme exhibiting glucose 1,6-bisphosphate synthase activity, with predominant expression in brain tissue. In 2021, biallelic pathogenic variants in the PGM2L1 gene were first linked to a neurodevelopmental disorder char...
Laura Keehan,Richard Sleightholm,Lianna J Marks et al.
Laura Keehan et al.
The Ras/mitogen-activated protein kinase (RAS/MAPK) pathway regulates cell proliferation, and dysregulation of this pathway has been linked to the increased risk of malignancy in a subset of disorders known as RASopathies (e.g., NF1, Costel...
An Uncommon Case of Hypophosphataemia-Non-Lethal Raine Syndrome With Novel FAM20C Variant: Expanding the Phenotypic Spectrum [0.03%]
罕见低磷血症非致死Raine综合征新型FAM20C变异病例报告：扩大表型谱系
Candice Wai-Man Au,Shirley Sze-Wing Cheng,Timothy Hua-Tse Cheng et al.
Candice Wai-Man Au et al.
Raine Syndrome (MIM #259775) is an autosomal recessive osteosclerotic disorder due to biallelic variants in the FAM20C gene. It is classified into two subtypes based on perinatal lethality. Here, we report an 18-year-old male who presented ...
A Systematic Review and Meta-Analysis of the Birth Prevalence of Turner Syndrome [0.03%]
特纳综合征出生患病率的系统评价和 meta 分析
David Hinds,Jeanne M Pimenta,Andrea Low et al.
David Hinds et al.
Turner syndrome, a chromosomal disorder, causes short stature, pubertal arrest, amenorrhea, and infertility in females. Prevalence estimates vary widely; however, reliable estimates are important for public health initiatives. Therefore, a ...
An Additional Report of a Female With a Complex XY Translocation Is Presented Who Has Successfully Completed a Pregnancy With Significant Y Chromosome Material Gain and Partial X Deletion [0.03%]
一项关于一名携带复杂XY染色体易位女性的额外报告：该患者成功完成了一次妊娠，其Y染色体物质有所增加，并且部分X染色体缺失
John Coleman,Nicola Walsh,Deborah M Lambert et al.
John Coleman et al.
Genome Sequencing Identifies a Heterozygous Deletion of RBFOX2 in a Family With Congenital Heart Disease: A Case Report [0.03%]
基因组测序鉴定出一起先天性心脏病家系携带RBFOX2杂合缺失：病例报告
Francesca Jean,Amanda Stuart,Julien Marcadier et al.
Francesca Jean et al.
We report a 15-year-old female with hypoplastic left heart syndrome and a strong family history of congenital heart defects. Quad genome sequencing was performed following negative chromosomal microarray and congenital structural heart dise...