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Evidence for a new microdeletion syndrome in 15q21

2003; Spandidos Publishing; Linguagem: Inglês

10.3892/ijmm.11.5.575

1791-244X

Thomas Liehr, Heike Starke, Ana Helena Heller, Anja Weise, Volkmar Beensen, Gabriele Senger, G. Kittner, M. Prechtel, U. Claussen, J. Seidel,

Congenital heart defects research

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.