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Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients

✍ Scribed by B. J. Trask; Heather Mefford; Ger van den Engh; Hillary F. Massa; Ramesh C. Juyal; Lorraine Potocki; Brenda Finucane; Dianne N. Abuelo; David R. Witt; Ellen Magenis; Antonio Baldini; Frank Greenberg; James R. Lupski; P. I. Patel


Book ID
106136509
Publisher
Springer
Year
1996
Tongue
English
Weight
111 KB
Volume
98
Category
Article
ISSN
0340-6717

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Two patients with duplication of 17p11.2
✍ Brown, Angela; Phelan, Mary C.; Patil, Shivanand; Crawford, Eric; Rogers, R. Cur πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 23 KB πŸ‘ 1 views

J.M. and H.G. are two unrelated male patients with developmental delay. Cytogenetic analysis detected a duplication of 17~11.2 in both patients. The extent of the duplicated region was determined using single copy DNA probes: cen-Dl7S58-Dl7S29-D17S258-D 1757 1-D 175445-D 178122-tel. Four of the six