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Ring chromosome 15 in a male adult with radial defects. Evaluation of the phenotype
Author(s) -
Meinecke Peter,
KoskeWestphal Thea
Publication year - 1980
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.1399-0004.1980.tb01788.x
Subject(s) - phenotype , hypoplasia , head circumference , karyotype , short stature , ring chromosome , circumference , chromosome , genetics , biology , anatomy , medicine , pediatrics , gene , birth weight , pregnancy , geometry , mathematics
A case of a 37‐year‐old male patient with r(15) is reported. At birth he was small and light for dates. His main features are: short stature, head circumference in the lower normal range, mid‐facial hypoplasia, radial defects, and mental retardation. Evaluation of the phenotype led us to conclude that a wide spectrum of malformations is possible. There is apparently no strong correlation between karyotype and phenotype.