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Parental origin of de novo translocation in a patient with both an inherited and a de novo chromosome translocation

โœ Scribed by Reilly, Dorothy S. ;Nussbaum, Robert L.


Publisher
John Wiley and Sons
Year
1990
Tongue
English
Weight
161 KB
Volume
37
Category
Article
ISSN
0148-7299

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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

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