期刊
EUROPEAN JOURNAL OF PEDIATRICS
卷 167, 期 6, 页码 655-659出版社
SPRINGER
DOI: 10.1007/s00431-007-0568-y
关键词
ring chromosome 18; mosaicism; 18q deletion syndrome; 18p deletion syndrome; microcephaly; mental retardation; Trisomy 18
类别
Major neurological disorders may accompany rare chromosomal abnormalities. As an example of this rare condition, we present a case with microcephaly, mental retardation, developmental delay, hyperactivity, stereotypic movements, seizures and dysmorphic facial appearance in whom a mosaic ring chromosome 18 was found [45,XX,-18/46,XX,r(18)/46,XX,dicr(18)]. Although ring chromosome 18 phenotype has been known for a long time, this is the third reported patient with a dicentric ring chromosome 18 mosaicism. The presented case will contribute to the identification of the genotype-phenotype correlation in chromosome 18 anomalies.
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