A cryptic unbalanced translocation der(4)t(4;17)(p16.1;q25.3) identifies Wittwer syndrome as a variant of Wolf-Hirschhorn syndrome

Am J Med Genet A. 2014 Dec;164A(12):3213-4. doi: 10.1002/ajmg.a.36765. Epub 2014 Sep 23.

Authors

Ilse Wieland¹, Denny Schanze, Ina Schanze, Marianne Volleth, Petra Muschke, Martin Zenker

Affiliation

¹ Institute of Human Genetics, University Hospital Magdeburg, Otto-von-Guericke University, Magdeburg, Germany.

PMID: 25251057
DOI: 10.1002/ajmg.a.36765

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Chromosomes, Human, Pair 17 / genetics*
Chromosomes, Human, Pair 4 / genetics*
Deaf-Blind Disorders / classification*
Deaf-Blind Disorders / genetics*
Epilepsy / classification*
Epilepsy / genetics*
Growth Disorders / classification*
Growth Disorders / genetics*
Humans
In Situ Hybridization, Fluorescence
Male
Mental Retardation, X-Linked / classification*
Mental Retardation, X-Linked / genetics*
Microarray Analysis / methods
Translocation, Genetic / genetics*
Wolf-Hirschhorn Syndrome / genetics*

Supplementary concepts

Wittwer syndrome