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Trisomy 1q42→qter in a sister and brother: Further delineation of the “trisomy 1q42→qter Syndrome”

✍ Scribed by Verschuuren-Bemelmans, Corien C. ;Leegte, Beike ;Hodenius, Thea M. J. ;Cobben, Jan M.


Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
406 KB
Volume
58
Category
Article
ISSN
0148-7299

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Inv dup del (1)(pter?q44::q44?q42:) with
✍ De Brasi, D. ;Rossi, E. ;Giglio, S. ;D'Agostino, A. ;Titomanlio, L. ;Farina, V. 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 249 KB

We report on a girl with a trisomy 1q42±q44 due to an inverted duplication of this region, associated with a terminal deletion of the long arm of the rearranged chromosome 1. Both the large duplication (more than 30 cM) and the small deletion were detected by FISH. Complete karyotype was: (46,XX, in