Liehr T, Starke H, Heller A, Weise A, Beensen V, Senger G, Kittner G, Prechtel M, Claussen U, Seidel J
Institut für Humangenetik und Anthropologie, Postfach, D-07740 Jena, Germany.
Int J Mol Med. 2003 May;11(5):575-7. doi: 10.3892/ijmm.11.5.575.
We report on the fourth known case with an interstitial deletion in 15q21. In the present case the breakpoints have been determined by GTG-banding, microdissection and the recently developed multicolor banding (MCB) technique as 15q21.1-q21.3. Common features in all four cases are mental retardation, growth retardation, a beak-like nose with hypoplastic alae nasi and a thin upper lip. Additional frequent features are small hands and feet, hypotonia, low hair implantation, low set ears, clinodactyly and obesity. The possibility that a critical region for a new microdeletion-syndrome is situated in 15q21 is discussed.
我们报告了第四例已知的15q21间质性缺失病例。在本病例中，通过GTG显带、显微切割以及最近开发的多色显带（MCB）技术确定断点位于15q21.1 - q21.3。所有四例病例的共同特征为智力发育迟缓、生长发育迟缓、鼻尖似鸟嘴且鼻翼发育不全以及上唇较薄。其他常见特征包括手足较小、肌张力减退、毛发植入低、耳朵低位、手指弯曲和肥胖。本文讨论了15q21存在新的微缺失综合征关键区域的可能性。
