Two Siblings With Similar Phenotypes: One of Them Had Ring 20 Chromosome

被引：3

作者：

Tezer, F. Irsel ^{[1
]}

Aktas, Dilek ^{[2
]}

Alikasifoglu, Mehmet ^{[2
]}

Saygi, Serap ^{[1
]}

机构：

[1] Hacettepe Univ, Fac Med, Dept Neurol, TR-06100 Ankara, Turkey

[2] Hacettepe Univ, Fac Med, Dept Genet, TR-06100 Ankara, Turkey

来源：

CLINICAL EEG AND NEUROSCIENCE | 2013年 / 44卷 / 01期

关键词：

ring chromosome; ring; 20; chromosome; epilepsy; seizure; nonconvulsive seizures; electroencephalography (EEG); phenotype; mental retardation; MOSAICISM; DELETIONS; EPILEPSY; DISORDER; PATTERN;

D O I：

10.1177/1550059412451700

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We present the electroclinical features and cytogenetic findings of 2 siblings with the ring 20 chromosome (r(20)) phenotype, one of which had r(20) mosaicism. A history of epilepsy or learning problems should be determined in family members, although these relatives had no ring formation in chromosome 20. Whether the clinical features result from possible deletions or ring formation is discussed.

引用

页码：58 / 61

页数：4

共 16 条

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