Complete and pure trisomy 18p due to a complex chromosomal rearrangement in a male adult with mild intellectual disability

Author:

Orendi Kristina1,Uhrig Sabine1,Mach Monika1,Tschepper Petra1,Speicher Michael R.1

Affiliation:

1. Institute of Human Genetics; Medical University of Graz; Graz; Austria

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference21 articles.

1. The isochromosome 18p syndrome: Confirmation of cytogenetic diagnosis in nine cases by in situ hybridization;Callen;Am J Hum Genet,1990

2. Autosomal imbalance with a near-normal phenotype: The small effect of trisomy for the short arm of chromosome 18;Gardner;Birth Defects Orig Artic Ser,1978

3. Chromosome 18 aberrations and epilepsy: A review;Grosso;Am J Med Genet Part A,2005

4. Monosomy 18p and pure trisomy 18p in a family with translocation (7;18);Habedank;J Med Genet,1983

5. De novo partial trisomy of chromosome 18(pter yields q11:). Some observations on the phenotype mapping of chromosome 18 imbalances;Hernandez;Ann Genet,1979

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