Germline mosaicism at the fragile X locus.
We have identified a fragile X syndrome pedigree where the disorder is associated with a molecular deletion. The deletion was present in the DNA of 2 sons but was absent in the mother's somatic cell (lymphocyte) DNA. The results are consistent with the deletion arising as a postzygotic event in the mother, who therefore is germinally mosaic. This finding has important implications for counseling fragile X families with deletion mutations.
Prior
T W
TW
Department of Pathology, Ohio State University, Columbus 43210, USA.
Papp
A C
AC
Snyder
P J
PJ
Sedra
M S
MS
Guida
M
M
Enrile
B G
BG
D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics*; D017353:Gene Deletion; D018095:Germ-Line Mutation; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D009030:Mosaicism; D010375:Pedigree