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PEDIGREE DEMONSTRATING A SEX-LINKED RECESSIVE CONDITION CHARACTERIZED BY DRAINING EARS, ECZEMATOID DERMATITIS AND BLOODY DIARRHEA
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1954
Year
Genetic TestingGenetic EpidemiologyPathologyDermatologyClinical GeneticsPrimary DeviationGenetic AnalysisHematologyPublic HealthDisorders Of Sex DevelopmentBloody DiarrheaStatistical GeneticsDermatopathologyInborn Error Of ImmunityGenetic BasisGenetic DisorderPathogenesisPediatricsMedical GeneticsMedicine
The study performed genetic analysis of a family with a suspected secondary thrombocytopenic purpura to identify the underlying genetic cause. Sixteen of 40 male infants died, ten of whom, including the proband, exhibited draining ears, eczematoid dermatitis, and bloody diarrhea, supporting a sex‑linked recessive gene as the cause.
Genetic analysis of the family of an individual suffering from what appeared to be secondary thrombocytopenic purpura indictated that: 1. Sixteen of 40 male infants died. Ten of these, including the proband, were known to have suffered from draining ears, eczematoid dermatitis and bloody diarrhea. The pattern of deaths agrees with the assumption that a sex-linked recessive gene is responsible for the primary deviation which leads to the death of these infants.