作者: Walter H. C. Burgdorf
DOI: 10.1001/ARCHDERM.1980.01640300009008
关键词: Chromosome 、 Genetics 、 Michelin tire baby syndrome 、 Normal female 、 Michelin tire syndrome 、 Karyotype 、 Biology
摘要: To the Editor.— Gardner et al, in AugustArchives(115:978-979, 1979), stated that karyotypic studies on their patient with Michelin Tire baby syndrome "showed a normal female XX pattern, but an abnormal deletion of chromosome 11." I would like to request following additional information: (1) What type cytogenetic were performed? banding techniques used identify chromosomes and segments? (2) Exactly how many karyotypes examined, what percentage was change 11 found? (3) How much deleted? Which arm Was entire (4) is "an deletion"? Are there deletions? Only somewhat more detailed information can we interpret such potentially meaningful statements about chromosomal abnormalities clinical syndromes.