T

 

Trisomi 22 (Parsiyel tetrasomi 22 sendromu; Schmid-Fraccaro sendromu; kedi gözü sendromu)

Spontan

Çoğu ölü doğum

Gelişme geriliği

Mikrosefali

Hipertelorizm

Mikroftalmi

Koloboma

Katarakt

Strabismus

Kulak kepçesi anomalisi

Dış kulak yolu stenozu

Filtrum uzun

Mikrognati

Yarık damak

Konjenital kalp defektleri

Böbrek agenezi/anomalileri

Safra yolları agenezi

Uterus agenezi

Meme ucu anomalileri

İnguinal herniler

İnmemiş testis

Parmak anomalileri

Hipotoni

 

  • Balcı S, Halıcıoğlu C, Say B, Taysi K. The cat-eye syndrome with unusual skeletal malformations. Acta Paediatrica Scandinavica, 63: 623-626, 1974

  • Anneren G, Gustavson K-H. Trisomy 22 syndrome in a 26-year-old female - A follow-up examination. Hereditas, 94: 67-71, 1981

  • Rosias PPR, Sijstermans JMJ, Theunissen PMVM, et al. Phenotypic variability of the cat eye syndrome, case report and review of the literature. Genetic Counseling, 12: 273-282, 2001

  • Tinkle BT, Walker ME, Blough-Pfau RI, et al. Unexpected survival in a case of prenatally diagnosed non-mosaic trisomy 22: Clinical report and review of the natural history. American Journal of Medical Genetics A, 118A(1):90-95, 2003

  • Kehinde FI, Anderson CE, McGowan JE, et al. Co-occurrence of non-mosaic trisomy 22 and inherited balanced t(4;6)(q33;q23.3) in a liveborn female: case report and review of the literature. American Journal of Medical Genetics A, 164A(12):3187-3193, 2014