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Neuropediatrics 1991; 22(4): 181-183
DOI: 10.1055/s-2008-1071437
Original article

© Georg Thieme Verlag KG Stuttgart · New York

Congenital Myotonic Dystrophy Associated with a Chromosome Pericentric Inversion

M.  Miyazaki1 , T.  Hashimoto1 , M.  Tayama1 , Y.  Kuroda1 , T.  Ueta2
  • 1Department of Pediatrics, University of Tokushima, School of Medicine, Kuramoto-cho, Tokushima 770, Japan
  • 2Department of Pediatrics, Anan Kyoei Hospital, Hanouta-cho, Naka DD 9-11, Japan
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Publication History

Publication Date:
19 March 2008 (online)

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Abstract

We report two cases of congenital myotonic dystrophy (CMyD) associated with a chromosome abnormality of pericentric inversion. Case 1 was a two-month-old boy, presented with 46 XY, inv (9) (p 11q 13). His father had the same chromosome abnormality without any clinical manifestations. His mother had clinical manifestations of myotonic dystrophy (MyD) but had no chromosomal aberration. Case 2 is a one-month-old girl, presented with 46 XX, inv (4) (p15.31q25). Her mother had clinical manifestations of MyD and the same chromosome abnormality as Case 2, but her father was normal. Our case report may be of value in adding further information on the pathogenesis of CMyD.

Key words

Chromosome abnormality - Congenital myotonic dystrophy - Myotonic dystrophy

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