Maternal transmission of a ring chromosome 15.
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.
Nikitina
N V
NV
Regional Medico-Genetic Center, Ekaterinburg, Russia.
Bushueva
O A
OA
Nikolaeva
E B
EB
Pavlov
G V
GV
Lurie
I W
IW
D002675:Child, Preschool; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D007621:Karyotyping; D008297:Male; D009035:Mothers; D012303:Ring Chromosomes; D013577:Syndrome