Trisomy 1q42.3-qter and monosomy 21q22.3-qter associated with ear anomaly, facial dysmorphology, psychomotor retardation, and epilepsy: delineation of a new syndrome

Am J Med Genet A. 2007 Sep 1;143A(17):2065-9. doi: 10.1002/ajmg.a.31792.

Authors

Karin Tuschl¹, Barbara Fritz, Marion Herle, Christa Fonatsch, Olaf A Bodamer

Affiliation

¹ Biochemical and Paediatric Genetics, Department of General Paediatrics, University Children's Hospital, Medical University Vienna, Vienna, Austria.

PMID: 17676599
DOI: 10.1002/ajmg.a.31792

No abstract available

Publication types

Case Reports
Comparative Study
Review

MeSH terms

Chromosome Deletion*
Chromosomes, Human, Pair 1 / genetics*
Chromosomes, Human, Pair 21 / genetics*
Ear, External / abnormalities*
Epilepsy / genetics*
Facial Bones / abnormalities*
Female
Humans
Infant
Psychomotor Disorders / genetics*
Syndrome
Trisomy / genetics*