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9p trisomy/18p distal monosomy and multiple cutaneous leiomyomata

✍ Scribed by J. P. Fryns; M. Haspeslagh; A. Mûelenaere; H. Berghe

Publisher
Springer
Year
1985
Tongue
English
Weight
827 KB
Volume
70
Category
Article
ISSN
0340-6717

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✦ Synopsis

In this report a severely mentally retarded adult female with 9p trisomy/18pter monosomy is described. In addition to a 9p trisomy phenotype this patient presented with multiple cutaneous leiomyomata. The question is raised whether the concurrence of the chromosomal anomaly and the multiple skin tumors in this patient indicates another example of a specific chromosomal deletion (18pter) in a dominantly inherited multiple human tumor.

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