Serra A, Bova R, Bellanova G, Chindemi A, Zappata S, Brahe C
Medical Genetics Service, Miulli Hospital, Acquaviva delle Fonti, Bari, Italy.
Am J Med Genet. 1997 Aug 8;71(2):139-43.
We report on a case with a partial monosomy for the regions 9p23 --> pter and 13p11 --> pter as a result of a de novo translocation (9p23;13p11). The patient, a 16-year-old girl, has mental deficiency, obesity, and minor anomalies, including trigonocephaly, hypertelorism and a short, broad neck. Cytogenetic and microsatellite marker analysis allowed us to assign the breakpoint to the chromosomal region 9p23, flanked by the markers D9S144 and D9S157. In an attempt to establish a phenotype-genotype correlation, the clinical manifestations present in our patient are compared to those with partial 9p monosomy and breakpoint in p23, referred to in the literature.
我们报告了一例因新发易位（9p23；13p11）导致9p23→pter和13p11→pter区域部分单体性的病例。患者为一名16岁女孩，有智力缺陷、肥胖以及一些轻微异常，包括三角头畸形、眼距过宽和短而宽的颈部。细胞遗传学和微卫星标记分析使我们能够将断点定位到9p23染色体区域，两侧为标记D9S144和D9S157。为了建立表型-基因型相关性，我们将该患者的临床表现与文献中提及的9p部分单体性且断点位于p23的患者的临床表现进行了比较。
