15号染色体间质缺失：两例报告
Interstitial deletion of chromosome 15: two cases.
作者信息
Formiga L D, Poenaru L, Couronne F, Flori E, Eibel J L, Deminatti M M, Savary J B, Lai J L, Gilgenkrantz S, Pierson M
机构信息
Service de Génétique, Centre de Transfusion Sanguine, Vandoeuvre les Nancy, France.
出版信息
Hum Genet. 1988 Dec;80(4):401-4. doi: 10.1007/BF00273663.
PMID:3198122
Abstract
Two cases of interstitial deletion of chromosome 15 with similar clinical features are presented. In one case, assay of hexosaminidase A enabled us to confirm that the structural gene is located between 15q22 and 15q25 and that it is included in the deletion.
摘要
本文报告了两例具有相似临床特征的15号染色体间质性缺失病例。在其中一例中，通过对己糖胺酶A的检测，我们得以确认该结构基因位于15q22和15q25之间，且包含在缺失区域内。
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