1例新发rcp(7;15)(q32;q15)患者的7q32部分单体性。
Partial monosomy of 7q32 in a case of de novo rcp(7;15)(q32;q15).
作者信息
D'Alessandro E, Ligas C, Lo Re M L, Marcanio M P, Gentile T, Del Porto G
机构信息
Dipartimento di Medicina Interna e Sanità Pubblica, Università dell'Aquila, Italy.
出版信息
J Med Genet. 1994 May;31(5):413-5. doi: 10.1136/jmg.31.5.413.
A de novo apparently balanced translocation between chromosomes 7 and 15 with breakpoints in q32 and q15 respectively is reported in a female child. Clinical features included general growth and psychomotor retardation, feeding problems, microcephaly, low set ears, a short neck, and brachydactyly. These findings suggested possible physical or functional partial monosomy of the 7q32 or 15q15 segments. The phenotype of this case is similar to other cases of 7q deletion.
据报道，一名女童存在7号和15号染色体之间的新生明显平衡易位，断点分别位于q32和q15。临床特征包括全身生长和精神运动发育迟缓、喂养问题、小头畸形、低位耳、短颈和短指。这些发现提示7q32或15q15片段可能存在物理或功能性部分单体性。该病例的表型与其他7q缺失病例相似。
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