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.
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAUniv Missouri Hlth Care, Dept Child Hlth, Div Med Genet, Columbia, MO 65211 USA
Magoulas, Pilar L.
El-Hattab, Ayman W.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Missouri Hlth Care, Dept Child Hlth, Div Med Genet, Columbia, MO 65211 USAUniv Missouri Hlth Care, Dept Child Hlth, Div Med Genet, Columbia, MO 65211 USA