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Fish mapping of a translocation breakpoint at 6q21 (or q22) in a patient with heterotaxia

✍ Scribed by Rumiko Kato; Naomichi Matsumoto; Masahiro Fujimoto; Motoi Nakano; Yusuke Nakamura; Norio Niikawa


Book ID
110676841
Publisher
Nature Publishing Group
Year
1997
Tongue
English
Weight
549 KB
Volume
42
Category
Article
ISSN
1435-232X

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De novo balanced translocation (6;18)(q2
✍ Kato, Rumiko; Yamada, Yutaka; Niikawa, Norio πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 279 KB πŸ‘ 1 views

We report on a sporadic case of heterotaxia with a de novo chromosome structural abnormality. The patient had inversely located heart (dextrocardia), stomach, duodenum, and cecum. In addition, she had cerebral atrophy, hypertelorism with telecanthus, infraorbital skin furrows, ear-lobe grooves, prom