由于新发t(1;18)(q25;q23)导致的1q部分三体和18q单体。
Partial trisomy 1q and monosomy 18q due to a de novo t(1;18)(q25;q23).
作者信息
Solé M T, Rivera H, Sánchez-Corona J, Plascencia L, Cantú J M
出版信息
Ann Genet. 1983;26(2):120-2.
PMID:6604487
Abstract
A two-year-old girl trisomic for the segment 1q25 leads to qter and partially monosomic for band 18q23 as a consequence of a de novo t(1;18)(q25;q23) is reported. Most of the proposita's clinical findings have been described in the 1qter trisomy and some others in the 18q monosomy. This observation is interpreted as additional evidence of epi-, iso-, and hypostatic interactions at the chromosomal level.
摘要
据报道，一名两岁女童因新发t(1;18)(q25;q23)导致1q25区段至qter三体，18q23带部分单体。先证者的大多数临床发现已在1qter三体中描述，其他一些在18q单体中描述。该观察结果被解释为染色体水平上位、等和下位相互作用的额外证据。
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