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A case report of a presumptive +i(18p) associated with serum IgA deficiency
Author(s) -
Ogata Kohei,
Iinuma Kazuso,
Kamimura Kikuro,
Morinaga Ryoko,
Kato Junko
Publication year - 1977
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.1399-0004.1977.tb01297.x
Subject(s) - iga deficiency , endocrinology , genetics , medicine , biology , antibody
The case of a 4‐month‐old male infant with retarded psychomotor development and multiple anomalies is presented. Cytogenetic studies on peripheral blood and skin cultures revealed a normal male complement with a supernumerary small metacentric chromosome. According to its size and its banding patterns, the metacentric chromosome was postulated to be an isochromosome for the short arm of number 18. A deficiency of serum IgA was observed in this patient.