An unexpected finding in a child with neurological problems: mosaic ring chromosome 18.
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.
Koç
Altuğ
A
Department of Medical Genetics, Faculty of Medicine, Gazi University, Ankara, Turkey.
Kan
Derya
D
Karaer
Kadri
K
Ergün
Mehmet A
MA
Karaoğuz
Meral Yirmibeş
MY
Gücüyener
Kivilcim
K
Hinreiner
Sophie
S
Liehr
Thomas
T
Perçin
E Ferda
EF
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008831:Microcephaly / Q000235:genetics*; D009030:Mosaicism; D010641:Phenotype; D012303:Ring Chromosomes; D014314:Trisomy; D014421:Turkey