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18p- Syndrome resulting from 14q/18q ‘dicentric’ fusion translocation

✍ Scribed by Steve J. Funderburk; Robert S. Sparkes; Ivana Klisak

Book ID
104705747
Publisher
Springer
Year
1977
Tongue
English
Weight
695 KB
Volume
39
Category
Article
ISSN
0340-6717

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✦ Synopsis

A child with nasal hypoplasia, growth and developmental delay, and 18p--due to 14q/18q apparent dicentric fusion is reported. Review of ten previously reported patients with 18p--due to fusion translocations involving the long arm of chromosome 18 reveals clinical features ranging from arrhinencephaly to minimal dysmorphic changes and mild retardation. This spectrum of clinical expression is similar to that seen in patients with partial 18p deletions. Since the same range of clinical features is observed whether there is partial or apparent total deletion of 18p, it is suggested that only a distal segment of the short arm of chromosome 18 may be etiologically related to the clinical phenotype in the 18p--syndrome.

📜 SIMILAR VOLUMES

18q- Syndrome resulting from a tdic(14p;
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✍ J. C. Lambert; Martine Ferrari; C. Bergondi; Alena Galliana; N. Ayraud 📂 Article 📅 1979 🏛 Springer 🌐 English ⚖ 572 KB

A case of 18q- syndrome due to a de novo tdic(14p;18q) is presented. The interest of this observation lies in the rarity of stable dicentric chromosomes arising from reciprocal translocations between autosomes.

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