An unexpected finding in a child with neurological problems: mosaic ring chromosome 18
EUROPEAN JOURNAL OF PEDIATRICS, cilt.167, sa.6, ss.655-659, 2008 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 167 Sayı: 6
- Basım Tarihi: 2008
- Doi Numarası: 10.1007/s00431-007-0568-y
- Dergi Adı: EUROPEAN JOURNAL OF PEDIATRICS
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.655-659
- Anahtar Kelimeler: ring chromosome 18, mosaicism, 18q deletion syndrome, 18p deletion syndrome, microcephaly, mental retardation, Trisomy 18, INDIVIDUALS, KARYOTYPE, PATIENT, MOTHER, ORIGIN, GIRL
- Gazi Üniversitesi Adresli: Evet
Özet
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.