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Apparently balanced de novo translocations in patients with abnormal phenotypes: Report of 6 cases

โœ Scribed by Avirachan T. Tharapel; Robert L. Summitt; Robert S. Wkroy Jr.; Paula Martens


Book ID
119838581
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
1012 KB
Volume
11
Category
Article
ISSN
0009-9163

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De novo balanced translocation (6;18)(q2
โœ Kato, Rumiko; Yamada, Yutaka; Niikawa, Norio ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 279 KB ๐Ÿ‘ 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