Buss P W
Department of Neonatal Medicine, University of Bristol, UK.
J Med Genet. 1994 Sep;31(9):726-30. doi: 10.1136/jmg.31.9.726.
Isolated limb reduction defects occur in approximately 1 in 2000 live births within which central ray anomalies are an important subgroup. Most affected persons have mild or moderate functional impairment. Considerable psychological morbidity may also occur. While there have been major strides forwards in our understanding of vertebrate limb development, the mechanisms responsible for central ray deformities remain poorly understood. Several case reports of central clefting anomalies associated with chromosomal rearrangements or interstitial deletions of 7q21.2-q21.3 suggest that this chromosomal region is important for limb development.
孤立性肢体减少缺陷在大约每2000例活产中出现1例,其中中央射线异常是一个重要的亚组。大多数受影响者有轻度或中度功能障碍。也可能出现相当程度的心理疾病。虽然我们对脊椎动物肢体发育的理解有了重大进展,但导致中央射线畸形的机制仍知之甚少。几例与7q21.2-q21.3染色体重排或间质性缺失相关的中央裂缺畸形病例报告表明,该染色体区域对肢体发育很重要。