Double aneuploidy in a Turkish child: Down-Klinefelter syndrome
Congenital Anomalies, cilt.48, sa.1, ss.45-47, 2008 (Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 48 Sayı: 1
- Basım Tarihi: 2008
- Doi Numarası: 10.1111/j.1741-4520.2007.00174.x
- Dergi Adı: Congenital Anomalies
- Derginin Tarandığı İndeksler: Scopus
- Sayfa Sayıları: ss.45-47
- Anahtar Kelimeler: Double aneuploidy, Down syndrome, Klinefelter syndrome
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
The occurrence of double aneuploidy in the one person is a relatively rare phenomenon. A 5-year-old child, the second-born of non-consanguineous parents, possessed an extra X chromosome in addition to trisomy 21. The proband's parents and his brother showed normal karyotype. The phenotypic characteristics of the child have been discussed in light of the published reports on double aneuploidies of XXY and trisomy 21. © 2007 The Authors.