A case report of a presumptive +i(18p) associated with serum IgA deficiency
- 1 February 1977
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 11 (2), 184-188
- https://doi.org/10.1111/j.1399-0004.1977.tb01297.x
Abstract
The case of a 4 mo. 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 [immunoglobulin A] was observed in this patient.This publication has 5 references indexed in Scilit:
- An isochromosome of the short arms of the no. 18 chromosome in a mentally retarded girlClinical Genetics, 1976
- Origin of a small metacentric chromosome: Familial and cytogenetic evidenceClinical Genetics, 1975
- Multiple anomalies associated with an extra small metacentric chromosome: Modified Giemsa stain resultsHuman Genetics, 1973
- IgA absence associated with short arm deletion of chromosome No. 18The Journal of Pediatrics, 1969
- IMMUNE IMBALANCE IN DYSGAMMAGLOBULINÆEMIA TYPE IVThe Lancet, 1968