Cryptic subtelomeric deletion 9q34 is an increasingly important clinical picture with a recognizable phenotype. Patients are characterised by microcephaly, low muscle tone, congenital heart defects, moderate to severe mental retardation and frequent seizures. In addition, these patients have distinctive facial features with synophrys, midfacial hypoplasia, a short nose with anteverted nares, a thick lower lip and a large, protruding tongue. Cryptic subtelomeric deletion 9q34 can be detected by cytogenetic analysis using the fluorescence in situ hybridisation technique (FISH) or by molecular analysis using a specific MLPA (multiplex ligation-dependent probe amplification) kit. In this paper we present a patient with characteristic clinical features of cryptic subtelomeric deletion 9q34, which we were able to confirm by FISH analysis (subtelomere screening) and MLPA.
|Translated title of the contribution||Cryptic subtelomeric deletion 9q34 - A characteristic phenotype|
|Journal||Monatsschrift fur Kinderheilkunde|
|Number of pages||6|
|Publication status||Published - 08.2007|
Research Areas and Centers
- Research Area: Medical Genetics