P

 

Potocki-Lupski sendromu

Spontan

Gelişme geriliği

Mikrosefali

Trigonosefali

Alın geniş

Üçgen yüz

Hipertelorizm

Uzun burun ucu

Filtrum silik

Mikrognati

Çukur damak

Maloklüzyon

Oral-faringeal disfaji (beslenme sorunları)

Reflü

Kalp-damar anomalileri

Psikomotor gerilik

Hipotoni

Corpus callosum hipoplazisi

Otizm

Zeka geriliği

 

  • Potocki L, Chen K-S, Park S-S, et al. Molecular mechanism for duplication 17p11.2--the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nature Genetics, 24: 84-87, 2000

  • Potocki L, Bi W, Treadwell-Deering D, et al. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. American Journal of Human Genetics, 80: 633-649, 2007

  • Shchelochkov OA, Cheung SW, Lupski JR. Genomic and clinical characteristics of microduplications in chromosome 17. American Journal of Medical Genetics, 152A: 1101-1110, 2010