4.5 Review

Moyamoya syndrome secondary to mitochondrial disease in a patient with partial trisomy 13q14 and 13q31: A novel case report and literature review

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Medicine, General & Internal

Moyamoya disease and moyamoya syndrome in Ireland: patient demographics, mode of presentation and outcomes of EC-IC bypass surgery

Ronan J. Doherty et al.

Summary: In Ireland, moyamoya disease and syndrome patients are typically young females presenting with ischemic symptoms. Surgical intervention, including direct and indirect bypass surgery, is an effective treatment in the majority of cases.

IRISH JOURNAL OF MEDICAL SCIENCE (2021)

Article Neurosciences

De Novo Partial 13q22-q34 Trisomy with Typical Neurological and Immunological Findings: A Case Report with New Genetic Insights

Claudia Brogna et al.

Summary: The case demonstrates that partial trisomy 13q may lead to cerebral vasculitis, resulting in cerebral lesions and hemiparesis.

BRAIN SCIENCES (2021)

Article Genetics & Heredity

Mosaic proximal trisomy 13q and regular trisomy 13 in a female patient with long survival: Involvement of an incomplete trisomic rescue and a chromothripsis event

Veronica Fabiola Moran-Barroso et al.

Summary: The patient presents a wide range of clinical manifestations mainly due to proximal trisomy 13q, with the phenotype modified by the presence of a free trisomy 13 cell line. It is proposed that the mosaicism in the patient may have originated from a trisomic zygote that underwent a failed trisomic rescue associated with chromothripsis, resulting in the cell line with partial 13q proximal trisomy, which could explain the long-term survival of the patient.

MOLECULAR GENETICS & GENOMIC MEDICINE (2021)

Article Genetics & Heredity

Trisomy 13 and 18-Prevalence and mortality-A multi-registry population based analysis

Nitin Goel et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2019)

Article Clinical Neurology

Epileptic spasms and early-onset photosensitive epilepsy in Patau syndrome: An EEG study

Carlotta Spagnoli et al.

BRAIN & DEVELOPMENT (2015)

Review Endocrinology & Metabolism

MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options

Ayman W. El-Hattab et al.

MOLECULAR GENETICS AND METABOLISM (2015)

Review Multidisciplinary Sciences

Mutations causing mitochondrial disease: What is new and what challenges remain?

Robert N. Lightowlers et al.

SCIENCE (2015)

Article Clinical Neurology

Moyamoya Syndrome : A Window of Moyamoya Disease

Ji Hoon Phi et al.

JOURNAL OF KOREAN NEUROSURGICAL SOCIETY (2015)

Article Genetics & Heredity

Clinical delineation of proximal and distal partial 13q trisomy

J. Felix Rogers

CLINICAL GENETICS (2010)