Premium
Trisomy 18 mosaicism in two siblings
Author(s) -
Shih Lingyu,
Ldsu Lillian Y. F.,
Sujansky Eva,
Kushnick Theodore
Publication year - 1974
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.1399-0004.1974.tb01715.x
Subject(s) - microcephaly , karyotype , trisomy , g banding , biology , genetics , chromosome , growth retardation , fibroblast , cell culture , pregnancy , gene
Two siblings are presented displaying low Girth weight, marked microcephaly, severe mental and growth retardation, and convulsive disorder. Leukocyte and fibroblast cultures showed two cell lines, 46/ 47 ,+ 18 , The extra E group chromosome in 30 to 40% of the cells was identified as No. 18 by Q‐banding and G‐banding techniques.