Henegariu O, Heerema N A, Vance G H
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis 46202-5251, USA.
Am J Med Genet. 1997 Feb 11;68(4):450-4. doi: 10.1002/(sici)1096-8628(19970211)68:4<450::aid-ajmg15>3.0.co;2-r.
We report on a female infant with partial 6q trisomy (46,XX,dir dup(6)(q23.3q25.3)) and phenotypic characteristics of the "duplication 6q syndrome," including intrauterine growth retardation, dolichocephaly, depressed nasal bridge, almond-shaped palpebral fissures, short neck, flexion-contractures of the wrists, and mild generalized hypertonia. Although clearly belonging to the described "duplication 6q syndrome," her features were milder than those found in the literature. Comparison of the phenotype of this child with other published reports indicates that specific phenotypic components of the duplication 6q syndrome cannot be attributed to duplication of a specific band or bands on 6q.
我们报告了一名患有部分6号染色体长臂三体（46,XX,dir dup(6)(q23.3q25.3)）的女婴，其具有“6号染色体长臂重复综合征”的表型特征，包括宫内生长迟缓、长头畸形、鼻梁凹陷、杏仁状睑裂、短颈、手腕屈曲挛缩以及轻度全身性肌张力亢进。尽管该患儿明显属于所描述的“6号染色体长臂重复综合征”，但其特征比文献中报道的要轻。将该患儿的表型与其他已发表报告进行比较表明，6号染色体长臂重复综合征的特定表型成分不能归因于6号染色体长臂上特定条带的重复。
