Howard P N, Stoddard G R, Goddard M W, Seely J R
J Med Genet. 1975 Mar;12(1):44-8. doi: 10.1136/jmg.12.1.44.
A four-generation transmission of 1qh+ chromosome was ascertained by routine chromosome analysis of a mildly dysmorphic and retarded 61/2-year-old female. Concordance between synophrys and the 1qh+ marker was the only consistent phenotypic relationship. The variant chromosome did not appear uncoiled, and Giemsa centromeric staining (C-bands) revealed an increased width of the heterochromatin commensurate with the increased length of the long arm. Giemsa banding of the entire chromosome (G-bands) revealed two heterochromatin bands, identical in appearance, in the centromeric region with the remainder of the chromosome showing normal banding. The distribution of Duffy blood groups in the pedigree was consistent with the locus being on chromosome No. 1.
通过对一名轻度畸形且智力发育迟缓的6岁半女性进行常规染色体分析，确定了1qh +染色体的四代遗传。连眉与1qh +标记之间的一致性是唯一一致的表型关系。变异染色体未出现解螺旋，吉姆萨着丝粒染色（C带）显示异染色质宽度增加，与长臂长度增加相符。整条染色体的吉姆萨带型分析（G带）显示，着丝粒区域有两条外观相同的异染色质带，染色体其余部分显示正常带型。系谱中达菲血型的分布与该基因座位于1号染色体上一致。
