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Interstitial deletion 4q and Rieger syndrome
Author(s) -
Ligutić Ivo,
Brečević Lukrecija,
Petković Iskra,
Kalogjera Teodora,
Rajić Zdravko
Publication year - 1981
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1981.tb01042.x
Subject(s) - genetics , deletion syndrome , expressivity , dental anomalies , medicine , biology , phenotype , orthodontics , gene
In a 9‐year‐old girl, the diagnosis of the Rieger syndrome, an autosomal dominant disorder of variable expressivity, was established on the basis of characteristic congenital ocular and dental anomalies. Cytogenetic analysis revealed a de novo interstitial deletion of 4q.