一名无精子症患者中插入22号染色体的21号染色体发生双缺失。
Double deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient.
作者信息
Marquet Valentine, Bourgeois Dominique, De Mas Philippe, Bouneau Laurence, Vigouroux-Castera Adeline, Molignier Romain, Calvas Patrick
机构信息
Service de Génétique Médical, Centre Hospitalier Universitaire Purpan Toulouse, France.
Laboratoire de Biologie Clinique, Clinique Saint Jean Languedoc Toulouse, France.
出版信息
Clin Case Rep. 2015 Sep;3(9):757-61. doi: 10.1002/ccr3.313. Epub 2015 Aug 20.
We report on a phenotypically normal 41-year-old azoospermic man with a 45 chromosomes karyotype including one normal chromosome 21, one normal chromosome 22, and a der(22)ins(22;21). Array CGH showed a 1.8 Mb terminal deletion of bands 21pter to 21q21.1 and a 341 kb terminal deletion on band 21q22.3.
我们报告了一名表型正常的41岁无精子症男性，其核型为45条染色体，包括一条正常的21号染色体、一条正常的22号染色体和一条der(22)ins(22;21)。阵列比较基因组杂交显示21号染色体从pter端到21q21.1带存在1.8 Mb的末端缺失，以及21q22.3带存在341 kb的末端缺失。
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