Schwartz M F, Kaffe S, Wallace S, Desnick R J
Clin Genet. 1984 Dec;26(6):574-8. doi: 10.1111/j.1399-0004.1984.tb01106.x.
Partial monosomy of 6q resulting from an interstitial deletion of bands q16----q22 was found in a 12-year-old boy manifesting mental retardation, seizure disorder, and dysmorphic features. The correlation of phenotypic expression and specific long arm deletions of chromosome No. 6 is discussed.
在一名患有智力迟钝、癫痫症和畸形特征的12岁男孩中,发现因6号染色体q16----q22带间缺失导致的6q部分单体性。讨论了表型表达与6号染色体特定长臂缺失之间的相关性。