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Jacobsen sendromu (11q deletion)

Spontan

Trigonosefali

Makrosefali

Hipertelorizm

Kaş ve kirpik anomalileri

Mikroftalmi

Mikrokornea

Epikantus

Strabismus

Ptozis

Kolobomalar

Biçimsiz kulaklar

Küçük burun

Üst dudak ince

Balık ağzı görünümü

Mikrognati

Konjenital kalp defektleri

Bağışıklık sistemi sorunları

Solunum sistemi infeksiyonları

Dış genital organlarda hipoplazi

Psikomotor gerilik

  • Grossfeld PD, Mattina T, Lai Z, et al. The 11q terminal deletion disorder: a prospective study of 110 cases. American Journal of Medical Genetics A, 129A(1):51-61, 2004

  • Miller GL, Somani S, Nowaczyk MJ, et al. The ocular manifestations of Jacobsen syndrome: a report of four cases and a review of the literature. Ophthalmic Genetics, 27(1):1-7, 2006

  • Favier R, Akshoomoff N, Mattson S, Grossfeld P. Jacobsen syndrome: Advances in our knowledge of phenotype and genotype.  American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 169(3):239-250, 2015

  • Akshoomoff N, Mattson SN, Grossfeld PD. Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q. Genetics in Medicine,17(2):143-148, 2015

  • Blazina S, Ihan A, Lovrecic L, Hovnik T. 11q terminal deletion and combined immunodeficiency (Jacobsen syndrome): Case report and literature review on immunodeficiency in Jacobsen syndrome. American Journal of Medical Genetics A, 170(12):3237-3240, 2016