Premium
A young girl with ring(18) mosaicism: cytogenetic studies and PEP A mapping
Author(s) -
Rocchi Mariano,
Cigui Ileana,
Archidiacono Nicoletta,
Pecile Vanna,
Porcelli Giovanni,
Filippi Giorgio
Publication year - 1984
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1984.tb00806.x
Subject(s) - girl , fibroblast , ring chromosome , locus (genetics) , microbiology and biotechnology , chromosome , karyotype , biology , genetics , cell culture , gene
A young girl with 46, XX, r(18)/46, XX/45, XX, –18 chromosome constitution is reported. She displays a slight degree of mental retardation. The line with the ring chromosome predominates in blood lymphocytes. In skin fibroblast culture the ring(18) line showed a constant decreasing trend, from 45% at the first passage, down to its disappearance at the 19th passage, where only 46, XX cells were observed. The child/mid parents' ratio of Peptidase A activity in red cells was 0.36. The Peptidase A activity in a fibroblast clone 46, XX, r(l 8) was 0.55 compared to the 46, XX line. These data suggest that the PEP A locus was lost in ring formation.