Hypomelanosis of Ito and a 'mirror image' whole chromosome duplication resulting in trisomy 14 mosaicism
Annales de Genetique, cilt.43, sa.1, ss.39-43, 2000 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 43 Sayı: 1
- Basım Tarihi: 2000
- Doi Numarası: 10.1016/s0003-3995(00)00012-5
- Dergi Adı: Annales de Genetique
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.39-43
- Anahtar Kelimeler: chromosome mosaicism, congenital anomalies, mental retardation, hypomelanosis of Ito, pigmentary anomalies
- Sağlık Bilimleri Üniversitesi Adresli: Hayır
Özet
We describe a female infant with multiple congenital anomalies including unusual hyperpigmentation, tetralogy of Fallot, absent corpus callosum and wide prominent nasal bridge. The infant was initially seen for genetic consultation on day one after birth. Chromosome analysis from cultured lymphocytes showed a normal 46,XX karyotype. However, cultured skin fibroblasts showed mosaicism with 46,XX,add(14)(q32).ish psu dic dup(14)(q32p13)(wcp14+)/46,XX complements. A review of the published report with chromosome mosaicism and hypomelanosis of Ito (HMI) is included. We suggest that the trisomy 14 mosaicism seen in fibroblast cultures has importance in the expression of pigmentation dysplasias in this patient. Pigmentary anomaly may be due to loss or gain of specific genes that influence pigmentation located on the long arm of chromosome 14 in this patient. (C) 2000 Editions scientifiques et medicales Elsevier SAS.