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Interstitial Deletion of the Long Arm of Chromosome 13 and Retinoblastoma
Author(s) -
Ohdo Shozo,
Sonoda Tohru,
Madokoro Harumichi,
Hayakawa Kunio
Publication year - 1984
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1984.tb01868.x
Subject(s) - retinoblastoma , microcephaly , karyotype , medicine , long arm , chromosome , genetics , chromosomal translocation , pediatrics , biology , gene
A female infant is reported in whom bilateral retinoblastoma developed due to interstitial delection of the long arm of chromosome 13. Her chromosome karyotype examined with peripheral lymphocytes proved to be 46, XX, del (13) (q12.3 q21.2). Parental chromosome karyotypes were normal. Clinical symptoms were bilateral retinoblastoma, retardation of growth and development, and mild microcephaly. No other marked dysmorphic features were noted.