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Mosaicism for deletion 17p11.2 in a boy with the Smith-Magenis syndrome

✍ Scribed by Finucane, Brenda M. ;Kurtz, Michael B. ;Ramesh Babu, V. ;Scott, Charles I.


Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
592 KB
Volume
45
Category
Article
ISSN
0148-7299

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Mosaicism for del(17) (p11.2p11.2) under
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## Smith -Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation syndrome associated with deletion of band p11.2 of chromosome 17. The deletion is typically detected by high-resolution cy- togenetic analysis of chromosomes from peripheral lymphocytes. Fluorescence in situ hybr

Patient with large 17p11.2 deletion pres
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We report on a 22-year-old woman carrying a del(17)(p11.2p12) and presenting with the clinical manifestations of both Smith-Magenis syndrome (SMS) and Joubert syndrome (JS). Her facial anomalies, brachydactyly, severe mental retardation, and selfinjuring behavior could be attributed to SMS, whereas

Two patients with duplication of 17p11.2
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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