Koç Altuğ, Kan Derya, Karaer Kadri, Ergün Mehmet A, Karaoğuz Meral Yirmibeş, Gücüyener Kivilcim, Hinreiner Sophie, Liehr Thomas, Perçin E Ferda
Department of Medical Genetics, Faculty of Medicine, Gazi University, Ankara, Turkey.
Eur J Pediatr. 2008 Jun;167(6):655-9. doi: 10.1007/s00431-007-0568-y. Epub 2007 Aug 1.
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.
严重的神经疾病可能伴有罕见的染色体异常。作为这种罕见病症的一个例子，我们报告一例患有小头畸形、智力发育迟缓、发育延迟、多动、刻板动作、癫痫发作和面部畸形的病例，该病例中发现了嵌合型环状染色体18 [45,XX,-18/46,XX,r(18)/46,XX,dicr(18)]。虽然环状染色体18的表型早已为人所知，但这是第三例报告的具有双着丝粒环状染色体18嵌合现象的患者。该病例将有助于确定18号染色体异常中的基因型-表型相关性。
