The Genetics of Glucose-6-Phosphate-Dehydrogenase (G6PD) and Uridine Diphosphate Glucuronosyl Transferase 1A1 (UGT1A1) Promoter Gene Polymorphism in Relation to Quantitative Biochemical G6PD Activity Measurement and Neonatal Hyperbilirubinemia.

Unlabelled: Glucose-6-phosphate dehydrogenase (G6PD) deficiency and polymorphism in uridine diphosphate glucuronosyl transferase 1A1 (UGT1A1) were associated with significant neonatal hyperbilirubinemia (NHB) and increased risk for kernicterus. However, quantitative screening tests for G6PD enzyme activity proved unsatisfactory in estimating the risk for significant NHB, especially in heterozygous females that could present phenotype overlap between normal homozygotes, heterozygotes, and deficient homozygotes, resulting in a continuum of intermediate G6PD activity.

Objective: To examine the association of genotype and phenotype in newborns with decreased G6PD activity and its relation to NHB.

Detection of X chromosome aneuploidy using Southern blot analysis during routine population-based screening for fragile X syndrome.

We report herein two cases where detection of X chromosome aneuploidy (cytogenetically proved 45,X/46XX and 47,XXX) was made possible by molecular diagnosis during population-based carrier screening for Fragile X syndrome, using Southern blot analysis. This study emphasizes the value of molecular analysis for gene dosage to suggest chromosomal aneuploidy.

Carbamate and organophosphate poisoning in young children.

Objective: Retrospective evaluation of the clinical course of carbamate and organophosphate poisoning in young children.

Design: The records of 36 children intoxicated with carbamate and 16 children intoxicated with organophosphate (age range: 2 to 8 years, median: 2.8 years) were examined retrospectively.