A constitutional 5q23 deletion.
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.
Rivera
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Biologia Generale e Genetica Medica, Università di Pavia, Italy.
Simi
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Rossi
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Pardelli
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Di Paolo
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MC
D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5; D005260:Female; D005736:Gardner Syndrome / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability