因新发的（6；18）易位导致的6号染色体短臂部分三体，在不同组织中存在可变的嵌合现象。
Partial trisomy 6p from a de novo translocation (6;18) with variable mosaicism in different tissues.
作者信息
Rudnik-Schöneborn S, Schubert R, Majewski F, Haverkamp F, Schwanitz G
机构信息
Institute for Human Genetics, University of Bonn, Germany.
出版信息
Clin Genet. 1997 Aug;52(2):126-9. doi: 10.1111/j.1399-0004.1997.tb02530.x.
Partial trisomy 6p is regarded as a distinct phenotype with short stature, failure to thrive, facial dysmorphisms with blepharophimosis, mental retardation and other malformations. An 18-month-old girl with typical features of partial trisomy 6p showed a de novo unbalanced translocation resulting in partial trisomy 6p21 to pter and partial monosomy 18p11 to pter. The translocation was observed in all fibroblasts analyzed, but only in 6% of the peripheral lymphocytes.
6p部分三体被认为是一种具有独特表型的疾病，其特征包括身材矮小、生长发育迟缓、睑裂狭小面容畸形、智力障碍及其他畸形。一名具有典型6p部分三体特征的18个月大女童表现出一种新发的不平衡易位，导致6p21至pter部分三体及18p11至pter部分单体。在所分析的所有成纤维细胞中均观察到了这种易位，但仅在6%的外周血淋巴细胞中观察到。
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