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Two cases of partial trisomy 21 (pter-q22.1) without the major features of Down syndrome

✍ Scribed by Yoko Kondo; Seiji Mizuno; Kei Ohara; Takeshi Nakamura; Kenichiro Yamada; Shunji Yamamori; Chiemi Hayakawa; Takashi Ishii; Yasukazu Yamada; Nobuaki Wakamatsu


Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
229 KB
Volume
140A
Category
Article
ISSN
1552-4825

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Tetrasomy 21 pter→q22.1 and Down syndrom
✍ Daumer-Haas, Cornelia ;Schuffenhauer, Simone ;Walther, Joachim U. ;Schipper, Rob πŸ“‚ Article πŸ“… 1994 πŸ› John Wiley and Sons 🌐 English βš– 690 KB

## Abstract Down syndrome is usually caused by complete trisomy 21. Rarely, it is due to partial trisomy of the segment 21q22. We report on a 33‐month‐old girl with tetrasomy 21 pter β†’ q22.1 resulting from an extra chromosome idic(21)(q22.1). She has craniofacial traits typical of Down syndrome, in