Aalfs C M, Hoovers J M, Nieste-Otter M A, Mannens M M, Hennekam R C, Leschot N J
Institute for Human Genetics, Academic Medical Centre, Amsterdam, Netherlands.
J Med Genet. 1995 Dec;32(12):968-71. doi: 10.1136/jmg.32.12.968.
We report on a girl with a partial duplication of the proximal part of the long arm of chromosome 10, confirmed by chromosome painting. The phenotypic findings are compared to those found in six other published cases with the same karyotype. Recognition of a specific partial proximal trisomy 10q syndrome seems to be possible, consisting of mild to moderate developmental delay, postnatal growth retardation, microcephaly, prominent forehead, small and deep set eyes, epicanthus, upturned nose, bow shaped mouth, micrognathia, thick and flat helices of the ears, and long, slender limbs. Severe ocular malformations are possibly part of the syndrome. No major phenotypic differences were seen between patients with a duplication of segment 10q11-->10q22 and patients with a duplication of 10q21-->10q22.
我们报告了一名经染色体描绘证实存在10号染色体长臂近端部分重复的女孩。将该病例的表型特征与其他六例已发表的具有相同核型的病例进行了比较。似乎有可能识别出一种特定的近端10q部分三体综合征，其特征包括轻度至中度发育迟缓、出生后生长发育迟缓、小头畸形、前额突出、眼睛小且深陷、内眦赘皮、鼻背隆起、弓形嘴、小颌畸形、耳朵螺旋增厚扁平以及四肢细长。严重的眼部畸形可能是该综合征的一部分。10q11→10q22片段重复的患者与10q21→10q22重复的患者之间未观察到主要的表型差异。
