123...

 

22q11.2 deletion sendromu

Kalıtsal - AD / Spontan - Kromozom anomalisi

Paratiroid bezlerin agenezi/hipoplazisi

Hipoparatiroidizm: hipokalsemi, tetani

Kraniyosinostozis

Strabismus

Retina damarları kalın

Anoftalmi

Körüklü göz kapakları

Kulak anomalileri (Mondini malformasyonu)

Kronik otitis media

Yarık dudak

Yarık damak

Mine hipoplazisi

Diş agenezisi (oligodonti, hipodonti)

Konjenital kalp anomalileri (Fallot tetralojisi, ventriküler septal defekt, truncus arteriosus)

İmmun yetmezlik (timus hipoplazisi) bulguları

İnfeksiyon hastalıkları (akciğerlerde belirgin)

Jüvenil romatoid artrit

Larinks atrezisi

Laringotrakeoözofageal bileşke anomalileri (yutma güçlüğü)

Aspirasyon pnömonisi

Beslenme sorunları (kabızlık, GİS anomalileri)

Growth hormon eksikliği

Beyin ve m.spinalis anomalileri

Skolyoz

Polidaktili

Psikomotor gerilik

Hipotoni

Öğrenme güçlüğü

Ürogenital anomaliler

  • Fenotipler (çok ender olguların ayrıntıları verilmemiştir):

DiGeorge sendromu

Shprintzen sendromu (Velocardiofacial sendrom, Sedlackova sendromu): Çok ender

Conotruncal anomaly face sendromu: Çok ender

Opitz GBBB sendromu (otosomal dominant tipi)

Asimetrik ağlayan yüz sendromu (Cardiofacial sendrom-Carney): Çok ender

Polydactilia-dental-vertebral sendrom: Çok ender

 

  • Fenotiplere özgü bulgular:

Brakisefali ve kranyum asimetrisi (Opitz GBBB sendromu)

Sutura frontalis çıkıntılı (Opitz GBBB sendromu)

Hipertelorizm (Opitz GBBB sendromunda kadın taşıyıcılarda tek bulgu)

Burun sırtı çıkıntılı, nazal septum kısa (Opitz GBBB sendromu)

Garip yüz yapısı (Asimetrik ağlayan yüz sendromu, Opitz GBBB sendromu)

Mikrostomia (DiGeorge sendromu)

Makrognati-üstçene (DiGeorge sendromu)

Yarık damak (Shprintzen sendromu)

Yarık dudak-damak-dil (Opitz GBBB sendromu)

Ankyloglossia (Opitz GBBB sendromu)

Süpernümerer dişler (Opitz GBBB sendromu)

Oligodonti (Polydactilia-dental-vertebral sendrom)

Yüksek maksilla-mandibuler retrognati (Shprintzen sendromu)

Tek orta kesici diş (Shprintzen sendromu)

Yarık damak+uvula bifida (DiGeorge sendromu)

Mikrognati (Opitz GBBB sendromu)

Neonatal dişler (Opitz GBBB sendromu)

Hipodonti (Opitz GBBB sendromu)

Mikrosefali (Shprintzen sendromu; Opitz GBBB sendromu)

Beyinde Dandy-Walker malformasyonu (Opitz GBBB sendromu)

Corpus callosum ve serebellar vermis hipoplazisi/agenezi (Opitz GBBB sendromu)

Tümör riski: Hepatoblastoma, renal cell ca, Wilms tümörü, nöroblastoma (DiGeorge sendromu, Shprintzen sendromu)

 

  • McDonald-McGinn DM, LaRossa D, Goldmuntz E, et al. The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients. Genetic Testing, 1:99–108, 1997

  • Wu HY, Rusnack SL, Bellah RD, et al. Genitourinary malformations in chromosome 22q11.2 deletion. Journal of Urology, 168:2564–2565, 2002

  • Kilic SS, Gurpinar A, Yakut T, et al. Esophageal atresia and tracheo-esophageal fistula in a patient with Digeorge syndrome. Journal of Pediatric Surgery, 38:E21–23, 2003

  • Sullivan KE. The clinical, immunological, and molecular spectrum of chromosome 22q11.2 deletion syndrome and DiGeorge syndrome. Current Opinion in Allergy and Clinical Immunology, 4:505–512, 2004

  • Oberoi S, Vargervik K. Velocardiofacial syndrome with single central incisor. American Journal of Medical Genetics, 132A:194–197, 2005

  • McDonald-McGinn DM, Reilly A, Wallgren-Pettersson C, et al. Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/ velocardiofacial syndrome). American Journal of Medical Genetics A, 140:906–909, 2006

  • Shaw A, Longman C, Irving M, Splitt M. Natal teeth in X-linked Opitz (GBBB) syndrome. Clinical Dysmorphology, 15:185–186, 2006

  • Forbes BJ, Binenbaum G, Edmond JC, et al. Ocular findings in the chromosome 22q11.2 deletion syndrome. Journal of AAPOS : The Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 11(2):179–182, 2007

  • Kobrynski LJ, Sullivan KE. Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet, 370:1443–1452, 2007

  • Fontanella B, Russolillo G, Meroni G. MID1 mutations in patients with X-linked Opitz GBBB syndrome. Human Mutation, 29:584–594, 2008

  • Ben-Shachar S, Ou Z, Shaw  CA. 22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome. American Journal of Human Genetics, 82(1):214-221, 2008

  • Miller DT, Adam MP, Aradhya S, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. American Journal of Human Genetics, 86:749–764, 2010

  • Alkalay AA, Guo T, Montagna C, et al. Genetic dosage compensation in a family with velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome. American Journal of Medical Genetics A, 155A:548–554, 2011

  • Tan TY, Collins A, James PA, et al. Phenotypic variability of distal 22q11.2 copy number abnormalities. American Journal of Medical Genetics A, 155:1623–1633, 2011

  • Habel A, McGinn MJ 2nd, Zackai EH, et al. Syndrome-specific growth charts for 22q11.2 deletion syndrome in Caucasian children. American Journal of Medical Genetics A, 158A:2665–2671, 2012

  • Nordgarden H, Lima K, Skogeda Nl, et al. Dental developmental disturbances in 50 individuals with the 22q11.2 deletion syndrome; relation to medical conditions? Acta Odontologica Scandinavica, 70(3):194-201, 2012

  • McDonald-McGinn DM, Sullivan KE, Marino B, et al. 22q11.2 deletion syndrome. Nature Reviews Disease Primers, 1:15071, 2015

  • Lubinsky M, Kantaputra PN. Syndromes with supernumerary teeth. American Journal of Medical Genetics, 170A:2611–2616, 2016