Premium
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.
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom