Maternal transmission of a ring chromosome 15.

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.

• Authors: N V Nikitina, O A Bushueva, E B Nikolaeva, G V Pavlov, I W Lurie
• Journal: Genetic counseling (Geneva, Switzerland) (Genet Couns) Vol. 14 Issue 2 Pg. 181-6 ( 2003) ISSN: 1015-8146 [Print] Switzerland
• PMID: 12872812 (Publication Type: Case Reports, Journal Article)

Topics

• Child, Preschool
• Chromosomes, Human, Pair 15 (genetics)
• Genetic Predisposition to Disease
• Humans
• Karyotyping
• Male
• Mothers
• Ring Chromosomes
• Syndrome