Case Reports
doi: 10.1111/j.1399-0004.1977.tb01297.x.
A case report of a presumptive +i(18p) associated with serum IgA deficiency
- PMID: 837568
- DOI: 10.1111/j.1399-0004.1977.tb01297.x
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Case Reports
A case report of a presumptive +i(18p) associated with serum IgA deficiency
Clin Genet.
1977 Mar.
Abstract
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.
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