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Two case with different presentation; 1p 36 deletion syndrome

Yıl 2020, , 128 - 131, 23.04.2020
https://doi.org/10.30569/adiyamansaglik.641603

Öz

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.

Kaynakça

  • 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.

Farklı prezentasyon gösteren iki vaka; 1p 36 delesyon sendromu

Yıl 2020, , 128 - 131, 23.04.2020
https://doi.org/10.30569/adiyamansaglik.641603

Öz

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. 

Kaynakça

  • 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.
Toplam 7 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Konular Sağlık Kurumları Yönetimi
Bölüm Olgu Sunumu
Yazarlar

Hilal Aydın 0000-0002-2448-1270

İbrahim Hakan Bucak 0000-0002-3074-6327

Mehmet Geyik 0000-0001-5373-8007

Haydar Bağış 0000-0002-1140-8058

Yayımlanma Tarihi 23 Nisan 2020
Gönderilme Tarihi 1 Kasım 2019
Kabul Tarihi 24 Mart 2020
Yayımlandığı Sayı Yıl 2020

Kaynak Göster

AMA Aydın H, Bucak İH, Geyik M, Bağış H. Farklı prezentasyon gösteren iki vaka; 1p 36 delesyon sendromu. ADYÜ Sağlık Bilimleri Derg. Nisan 2020;6(1):128-131. doi:10.30569/adiyamansaglik.641603