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Interstitial deletion 13q syndromes: A report on two unrelated patients

✍ Scribed by M. Serena-Lungarotti; Anna Calabro; G. Mariotti; P. P. Mastroiacovo; Silvana Provenzano; B. Dallapiccola

Book ID: 104700593
Publisher: Springer
Year: 1979
Tongue: English
Weight: 344 KB
Volume: 52
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00278676

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✦ Synopsis

A partial monosomy 13 by interstitial deletion was found in the complement of two patients with mental retardation and mild dysmorphic features. Neither of the patients had a retinoblastoma, even though the second patient had a 13q14 deletion. The karyotype-phenotype correlation in the two patients suggests the need to reconsider the clinical profile of these rare chromosomal syndromes in a large series of subjects.

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