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Spectral karyotyping, a 24-colour FISH technique for the identification of chromosomal rearrangements

✍ Scribed by Merryn Macville; T. Veldman; Hesed Padilla-Nash; Danny Wangsa; Patricia O’Brien; Evelin Schröck; T. Ried


Publisher
Springer
Year
1997
Tongue
English
Weight
688 KB
Volume
108
Category
Article
ISSN
1432-119X

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✍ Tonk, Vijay ;Schneider, Nancy R. ;Delgado, Mauricio R. ;Mao, Jen-i ;Schultz, Rog 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 21 KB 👁 3 views

We describe a family in which two siblings exhibited developmental delay, reduced muscle tone and mild muscle weakness. Cytogenetic evaluation demonstrated that both children had a tandem duplication of a small portion of the long arm of chromosome 10 [46,XX or XY,dir dup(lO)(q24.2+q24.3)], inherite