Hilal AYDIN, İbrahim Hakan BUCAK, Mehmet GEYİK, Haydar BAĞIŞ

Farklı prezentasyon gösteren iki vaka; 1p 36 delesyon sendromu

1p 36 delesyon sendromu en sık rastlanılan submikroskopik delesyon sendromlarından bir tanesidir. 1p 36 delesyon sendromlu hastalar; gelişimsel gecikme/zihinsel yetersizlik ve mikrobrakisefali, hipo/hipertelorizm, düz kaşlar, derin gözler, düz burun köprüsü, orta yüz hipoplazisi, düşük kulak, büyük geç kapanmış ön fontaneller gibi kendine özgü kraniyofasiyal görünüm gibi değişken derecelerde ortak klinik özelliklere sahiptirler. Bu yazımızda birbirinden farklı prezantasyon gösteren 1p 36 delesyon sendrom tanısı konulan iki olguyu sunmak istedik.

Anahtar Kelimeler:

Çocuk, Mental retardasyon, Nöbet, 1p 36 delesyon sendromu

Two case with different presentation; 1p 36 deletion syndrome

1p 36 deletion syndrome is one of the most common submicroscopic deletion syndromes. Patients with 1p 36 deletion syndrome have varying degrees of common clinical features such as the unique craniofacial features developmental delay/mental disability and microbraccephaly, hypo/hypertelorism, smooth eyebrows, deep eyes, flat nose bridge, midface hypoplasia, low ears, large late closed anterior fontanelles, In this article, we present two cases diagnosed as 1p 36 deletion syndrome with different presentation.

Keywords:

Child, Mental retardation, Seizure, 1p 36 deletion syndrome,

PDF

___

1- Shapira SK, McCaskill C, Northrup H, Spikes AS, Elder FF, Sutton VR, et al. Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome. Am J Hum Genet 1997;61:642-50.,
2- Heilstedt HA, Ballif BC, Howard LA, Kashork CD, Shaffer LG. Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality. Clin Genet 2003;64:310-6.
3- Jordan VK, Zaveri HP, Scott D. 1p36 deletion syndrome: an update. The Application of Clinical Genetics 2015;8:189–200.
4- Gajecka M, Mackay KL, Shaffer LG. Monosomy 1p36 deletion syndrome. Am J Med Genet C Semin Med Genet 2007;145:346-56.
5- Bahi-Buisson N, Guttierrez-Delicado E, Soufflet C, Rio M, Daire VC, Lacombe D, et al. Spectrum of epilepsy in terminal 1p36 deletion syndrome. Epilepsia 2008;49:509-15.
6- Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, et al. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics 2008;121:404-10.
7- Seo GH, Kim JH, Cho JH, Kim GH, Seo EJ, Lee BH, Choi JH, Yoo HW. Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay. Korean J Pediatr 2016;59(1):16¬23.