ABSTRACT
A 5-year-old boy with Silver-Russell-like phenotype and developmental delay was found to have a ring chromosome 15. The same r(15) was found in his slightly mentally retarded mother with mild dysmorphism. Analysis of the literature showed 34 families with direct vertical transmission of a ring autosome. In 30 of these families abnormal chromosomes were inherited from the mothers; both maternal and paternal transmission was shown in different generations of one family; and only in 3 families ring chromosomes were inherited from the fathers. The possible explanations of preponderance of maternal transmission are briefly discussed.
Subject(s)
Chromosomes, Human, Pair 15/genetics , Karyotyping , Mothers , Ring Chromosomes , Child, Preschool , Genetic Predisposition to Disease , Humans , Male , SyndromeABSTRACT
Measurements of alpha-fetoprotein levels in 21 patients with mucoviscidosis have found them increased vs. a group of patients with chronic hepatitis, particularly so in cases with liver involvement. This fact recommends this test as an auxiliary one to be used when prescribing combined therapy to such patients, hepatotropic agents among other things.
