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Case Reports
. 1990 Apr;27(4):267-8.
doi: 10.1136/jmg.27.4.267.

A constitutional 5q23 deletion

H Rivera  1 , P Simi, S Rossi, L Pardelli, M C Di Paolo
Affiliations
Case Reports

A constitutional 5q23 deletion

H Rivera et al. J Med Genet. 1990 Apr.

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.

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References

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