1. A constitutional 5q23 deletion.
- Author
-
Rivera H, Simi P, Rossi S, Pardelli L, and Di Paolo MC
- Subjects
- Female, Gardner Syndrome genetics, Humans, Infant, Intellectual Disability, Chromosome Deletion, Chromosomes, Human, Pair 5
- Abstract
A 14 month old girl was found to have a deletion of the whole of band 5q23. By comparing 19 other cases monosomic for a part of the 5q13-q31 segment, the constitutional 5q interstitial deletions fall into two groups: adult patients with Gardner-like symptoms and mental retardation associated with deletion 5q21-q22, and patients (mostly children) with unspecific signs and symptoms and different deletions.
- Published
- 1990
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