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Rieger syndrome with de novo reciprocal translocation t(1;4) (q23.1;q25)

✍ Scribed by Makita, Yoshio ;Masuno, Mitsuo ;Imaizumi, Kiyoshi ;Yamashita, Sumimasa ;Ohba, Shizuko ;Ito, Daizou ;Kuroki, Yoshikazu

Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
306 KB
Volume
57
Category
Article
ISSN
0148-7299

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## Abstract We describe a de novo balanced reciprocal translocation between the long arms of chromosomes 5 and 8 [46,XX,t(5;8)(q35;q24.1)] in a 15‐month‐old girl with a typical Sotos syndrome phenotype. Involvement of the 5q35 region was previously reported (Maroun et al. [1994: Am J Med Genet 50:2

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## Abstract Rieger syndrome (RS; OMIM 180500) is a rare autosomal dominant disorder of morphogenesis, with ocular and systemic abnormalities and variability in phenotypic expression. Some patients with RS presented with a deletion of the band 4q25 to which the homeobox gene __PIT X2__ (former __RIE