Xp22.2 Chromosomal Duplication in Familial Intracranial Arachnoid Cyst

JAMA Neurol. 2017 Dec 1;74(12):1503-1504. doi: 10.1001/jamaneurol.2017.3399.

Authors

Charuta G Furey^{1

2}, Andrew T Timberlake^{2

3}, Carol Nelson-Williams², Daniel Duran^{1

2}, Peining Li², Eric M Jackson⁴, Kristopher T Kahle^{1

2}

Affiliations

¹ Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut.
² Department of Genetics, Yale University School of Medicine, New Haven, Connecticut.
³ Section of Plastic and Reconstructive Surgery, Yale University School of Medicine, New Haven, Connecticut.
⁴ Department of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, Maryland.

Abstract

This study presents a genetic locus for intracranial arachnoid cysts.

MeSH terms

Abnormalities, Multiple / diagnostic imaging
Abnormalities, Multiple / genetics
Arachnoid Cysts / diagnostic imaging
Arachnoid Cysts / genetics*
Chromosome Duplication / genetics*
Chromosomes, Human, Pair 22 / genetics
Comparative Genomic Hybridization / methods
DiGeorge Syndrome / complications*
DiGeorge Syndrome / diagnostic imaging
DiGeorge Syndrome / genetics
Family Health*
Female
Humans
Magnetic Resonance Imaging
Male

Supplementary concepts

Chromosome 22q11.2 Microduplication Syndrome

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