Evidence for a new microdeletion syndrome in 15q21

Liehr,T.; Starke,H.; Heller,A.; Weise,A.; Beensen,V.; Senger,G.; Kittner,G.; Prechtel,M.; Claussen,U.; Seidel,J.

doi:10.3892/ijmm.11.5.575

Evidence for a new microdeletion syndrome in 15q21

Authors:
- T. Liehr
- H. Starke
- A. Heller
- A. Weise
- V. Beensen
- G. Senger
- G. Kittner
- M. Prechtel
- U. Claussen
- J. Seidel
View Affiliations

Affiliations: Institut für Humangenetik und Anthropologie, Postfach, D-07740 Jena, Germany. i8lith@mti-n.mti.uni-jena.de
Published online on: May 1, 2003 https://doi.org/10.3892/ijmm.11.5.575
Pages: 575-577

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Abstract

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.