Patient with de novo 12p+ syndrome identified as dir dup (12) (p13) using subchromosomal painting libraries from somatic cell hybrids
Patient with de novo 12p+ syndrome identified as dir dup (12) (p13) using subchromosomal painting libraries from somatic cell hybrids
复制标题
使用来自体细胞杂交体的亚染色体绘制文库将患有新发 12p 综合征的患者鉴定为 dir dup (12) (p13)
作者：
L. Zelante;S. Calvano;B. Dallapiccola;R. Mingarelli;R. Antonacci;L. Chiovato;M. Rocchi
Several patients with partial 12p duplications are known. An additional patient, who presented with the clinical manifestations of trisomy 12p syndrome, is described. De novo duplication 12p13.1 →pter was diagnosed using subchromosomal painting libraries obtained from somatic cell hybrids.
影响因子：
56.9
作者：
LICHTER, P;TANG, CJC;WARD, DC
通讯作者：
WARD, DC