An unexpected finding in a child with neurological problems: mosaic ring chromosome 18

Author:

Koç Altuğ,Kan Derya,Karaer Kadri,Ergün Mehmet A.,Karaoğuz Meral Yirmibeş,Gücüyener Kıvılcım,Hinreiner Sophie,Liehr Thomas,Perçin E. Ferda

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Reference22 articles.

1. Baumer A, Giovannucci Uzielli ML, Guarducci S, Lapi E, Rothlisberger B, Schinzel A (2002) Meiotic origin of two ring chromosomes 18 in a girl with developmental delay. Am J Med Genet 113:101–104

2. Brodtkorb E, Torbergsen T, Nakken KO, Andersen K, Gimse R, Sjaastad O (1994) Epileptic seizures, arthrogryposis, and migrational brain disorders: a syndrome? Acta Neurol Scand 90:232–240

3. Dacou-Voutetakis C, Sertedaki A, Maniatis-Christidis M, Sarri C, Karadima G, Petersen MB, Xaidara A, Kanariou M, Nicolaidou P (1999) Insulin dependent diabetes mellitus (IDDM) and autoimmune thyroiditis in a boy with a ring chromosome 18: additional evidence of autoimmunity or IDDM gene(s) on chromosome 18. J Med Genet 36:156–158

4. Donlan MA, Dolan CR (1986) Ring chromosome 18 in a mother and son. Am J Med Genet 24:171–174

5. Faugeras C, Barthe D (1986) Transmission of an 18 ring chromosome in two generations in subjects of normal phenotype. J Genet Hum 34:313–320

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