Rare Translocations in Two Newborns with Down Syndrome
Yıl: 2015 Cilt: 22 Sayı: 3 Sayfa Aralığı: 194 - 196 Metin Dili: Türkçe İndeks Tarihi: 29-07-2022
Rare Translocations in Two Newborns with Down Syndrome
Öz: Trizomi 21, insanlarda en sık görülen kromozomal anöploidi olup sıklığı yaklaşık olarak 700 canlı doğumda 1'dir (1:700). Olguların %95'i klasik tip Down sendromu olup, fazla olan 21. kromozom serbesttir. Kalan vakaların yaklaşık yarısı 14/21 translokasyonu ile meydana gelirken, yarısını ise 21/21, 15/21 gibi diğer Robertsonian tipi translokasyonlar ve mozaik trizomiler oluşturur. Klasik ya da translokasyon tipi Down sendromu arasında fenotipik fark olmamasına rağmen, translokasyon tipi Down sendromunda ebeveynlerin taşıyıcı olma ihtimali gözönüne alınarak, anne-baba kromozom analizi yapılması gereklidir. Bu çalışmada Down sendromu bulguları nedeni ile başvuran iki yenidoğanın tanı, komorbid durumlar ve genetik danışmanlık süreci literatür bilgileri ışığında değerlendirilerek sunulmuştur.
Anahtar Kelime: Konular:
Down Sendromlu İki Yenidoğanda Nadir Translokasyonlar
Öz: Trisomy 21 is the most common chromosomal aneuploidy in humans with a frequency of about 1:700 live births. Free trisomy 21 constitutes about 95% of all cases, also known as standard Down syndrome. Nonclassic trisomies constitutes 5% and within this group almost half have 14/21 while the remainder carry 21/21, 15/21, and other Robertsonian translocations and mosaic trisomies. Although there are no phenotypic differences between standard and translocation trisomy 21, the latter could be the result of the possibility that one of the parents is a carrier for translocation. Therefore, parents' karyotypes should be evaluated in such cases. In this study, we report the process of diagnosis, comorbid conditions, and genetic counseling in two newborn patients with Down syndrome in the light of current literature.
Anahtar Kelime: Konular:
Belge Türü: Makale Makale Türü: Olgu Sunumu Erişim Türü: Erişime Açık
- Antonorakis S. Ten years of genomics chromosome 21 and DS. Genomics 1998;51:1-16.
- Alasdair G.W. Hunter. Management of Genetic Syndromes, Third Edition, Edited by Suzanne B. Cassidy and Judith E. Allanson 2010;23:309-32.
- Shaffer LG, McCaskillCh, Haller V, Brown JA, Jackson-Cokk CK. Further characterization of 19 cases of rea (21q;21q) anddelination as isochromosomes of Rob. Translocation in DS. Am J. Med. Genetics 1993;47:1218-22.
- Ceylan G, Erol D, Yüce H. Denevo 21/21 Translokasyonu Olan Down Sendromlu İki Olgu: Literatür Araştırması. Fırat Tıp Dergisi 2009;14(4):280-2.
- Dieter K, Albert S. Paternal meiotic origin of der(21;21)(q10;q10) mosaicism [46,XX/46,XX,der(21;21)(q10;q10), + 21] in a girl with mild Down syndrome. European Journal of Human Genetics 2000;(8):709-12.
- Park J, Chung KC. New Perspectives of Dyrk1A Role in Neurogenesis and Neuropathologic Features of Down Syndrome. Exp Neurobiol 2013 Dec;22(4):244-8.
- Scriven PN, Flinter FA, Braude PR, Ogilvie CM. Robertsonian translocations-reproductive risks and indications for preimplantation genetic diagnosis. Hum Reprod 2001;16:2267-73.
- Kolgeci S1, Azemi M, Ahmeti H, Dervishi Z, Sopjani M, Kolgeci J. Recurrent abortions and down syndrome resulting from Robertsonian translocation 21q; 21q. Med Arch. 2012;66(5):350-2.
- Källén B1, Mastroiacovo P, Robert E. Major congenital malformations in Down syndrome. Am J Med Genet. 1996 Oct 16;65(2):160-6.
- Roberts HE, Moore CA, Fernhoff PM, Brown AL, Khoury MJ. Population study of congenital hypotiroidism and associated birth defects,Am. J.Med. Genet. 1997;71:29-32.
| APA | YAŞAR E, EKİCİ C, SAVACI S, Karatoprak S, TEKEDERELİ İ (2015). Rare Translocations in Two Newborns with Down Syndrome. , 194 - 196. |
| Chicago | YAŞAR Emine,EKİCİ Cemal,SAVACI Serap,Karatoprak Serdar,TEKEDERELİ İbrahim Rare Translocations in Two Newborns with Down Syndrome. (2015): 194 - 196. |
| MLA | YAŞAR Emine,EKİCİ Cemal,SAVACI Serap,Karatoprak Serdar,TEKEDERELİ İbrahim Rare Translocations in Two Newborns with Down Syndrome. , 2015, ss.194 - 196. |
| AMA | YAŞAR E,EKİCİ C,SAVACI S,Karatoprak S,TEKEDERELİ İ Rare Translocations in Two Newborns with Down Syndrome. . 2015; 194 - 196. |
| Vancouver | YAŞAR E,EKİCİ C,SAVACI S,Karatoprak S,TEKEDERELİ İ Rare Translocations in Two Newborns with Down Syndrome. . 2015; 194 - 196. |
| IEEE | YAŞAR E,EKİCİ C,SAVACI S,Karatoprak S,TEKEDERELİ İ "Rare Translocations in Two Newborns with Down Syndrome." , ss.194 - 196, 2015. |
| ISNAD | YAŞAR, Emine vd. "Rare Translocations in Two Newborns with Down Syndrome". (2015), 194-196. |
| APA | YAŞAR E, EKİCİ C, SAVACI S, Karatoprak S, TEKEDERELİ İ (2015). Rare Translocations in Two Newborns with Down Syndrome. İnönü Üniversitesi Turgut Özal Tıp Merkezi Dergisi, 22(3), 194 - 196. |
| Chicago | YAŞAR Emine,EKİCİ Cemal,SAVACI Serap,Karatoprak Serdar,TEKEDERELİ İbrahim Rare Translocations in Two Newborns with Down Syndrome. İnönü Üniversitesi Turgut Özal Tıp Merkezi Dergisi 22, no.3 (2015): 194 - 196. |
| MLA | YAŞAR Emine,EKİCİ Cemal,SAVACI Serap,Karatoprak Serdar,TEKEDERELİ İbrahim Rare Translocations in Two Newborns with Down Syndrome. İnönü Üniversitesi Turgut Özal Tıp Merkezi Dergisi, vol.22, no.3, 2015, ss.194 - 196. |
| AMA | YAŞAR E,EKİCİ C,SAVACI S,Karatoprak S,TEKEDERELİ İ Rare Translocations in Two Newborns with Down Syndrome. İnönü Üniversitesi Turgut Özal Tıp Merkezi Dergisi. 2015; 22(3): 194 - 196. |
| Vancouver | YAŞAR E,EKİCİ C,SAVACI S,Karatoprak S,TEKEDERELİ İ Rare Translocations in Two Newborns with Down Syndrome. İnönü Üniversitesi Turgut Özal Tıp Merkezi Dergisi. 2015; 22(3): 194 - 196. |
| IEEE | YAŞAR E,EKİCİ C,SAVACI S,Karatoprak S,TEKEDERELİ İ "Rare Translocations in Two Newborns with Down Syndrome." İnönü Üniversitesi Turgut Özal Tıp Merkezi Dergisi, 22, ss.194 - 196, 2015. |
| ISNAD | YAŞAR, Emine vd. "Rare Translocations in Two Newborns with Down Syndrome". İnönü Üniversitesi Turgut Özal Tıp Merkezi Dergisi 22/3 (2015), 194-196. |
