Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8

Am J Med Genet A. 2007 Jan 1;143A(1):92-4. doi: 10.1002/ajmg.a.31540.

Authors

Raymonda Varon¹, Annika Müer, Klaus Wagner, Hannelore Zierler, Sigrun Sodia, Ludwig Rauter, Erwin Petek, Holger Tönnies, Haidemarie Neitzel, Karl Sperling, Peter M Kroisel

Affiliation

¹ Institute of Human Genetics, Charité, Humboldt University, Berlin, Germany.

PMID: 17103455
DOI: 10.1002/ajmg.a.31540

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Chromosomes, Human, Pair 8 / genetics*
Female
Humans
In Situ Hybridization, Fluorescence
Infant
Karyotyping
Male
Mothers
Nijmegen Breakage Syndrome / diagnosis
Nijmegen Breakage Syndrome / genetics*
Uniparental Disomy*