The genotype and phenotype of chromosome 18p deletion syndrome

Chromosome Duplication (14q) and The Genotype Phenotype Correlation

A de novo Deletion of Chromosome 18p With Persistent Limb Tremor and Difficulty Speaking: A Case Report

The common causes of 18p deletion syndrome are spontaneous errors in the chromosomal structure in the early stages of human embryonic development. In this study, a 29-year-old girl was introduced with the features of deletion of chromosome 18. In addition, GTG banding karyotype revealed that this case had a deletion involving the short arm of chromosome 18. In comparison with the usual phenotyp...

chromosome duplication (14q) and the genotype phenotype correlation

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Specific polysaccharide antibody deficiency in chromosome 18p deletion syndrome and immunoglobulin A deficiency.

Immunoglobulin (Ig) A deficiency has long been recognized in patients with chromosome 18 abnormalities. We present the case of a young girl in whom a chromosome 18p deletion syndrome (46,XX,del[18][p11.1]) was associated not only with IgA deficiency, but also with an inability to make antibody to the unconjugated pneumococcal polysaccharide vaccine, Pneumovax II, indicating a concomitant specif...

Dental caries history in nine children with chromosome 18p deletion syndrome.

Chromosome 18p deletion syndrome is caused by the deletion of a portion of genetic material on the short (p) arm of chromosome 18. Many of 100 prior case reports in the medical literature describing the dental health of subjects with this syndrome reported multiple caries associated with the syndrome. At the third annual international conference of The Chromosome 18 Registry & Research Society,...