upmc   PITTSBURGH CYTOGENETICS LABORATORY

 

LABORATORY SERVICES

 

SELECTED PUBLICATIONS

Co-existence of 9p deletion and Silver-Russell syndromes in a patient with maternally inherited cryptic complex chromosome rearrangement involving chromosomes 4, 9, and 11.
Am J Med Genet A. 2013 Jan;161A(1):179-84. PMID:23225375

Parental diagnosis of 2q32 deletion syndrome characterized by multiple segmental deletions and complex chromosomal rearrangement involving chromosomes 2, 5 and 7.
Fetal Diagn Ther. 2012;31(3):196-200. PMID: 22415219

Three supernumerary marker chromosomes in a patient with developmental delay, mental retardation, and dysmorphic features
Genetics Research International. 2011;2011:185271. PMID: 22567345

A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental features
American Journal of Medical Genetics Part A . 2011.155A(11):2795-800. PMID: 21990074

Molecular and clinical characterization of a recurrent cryptic unbalanced t(4q;18q) resulting in an 18q deletion and 4q duplication.
Am J Med Genet A. 2008 Nov 15;146A(22):2898-904. PMID: 18932219

Cytogenetic abnormalities detected by fluorescence in situ hybridization on paraffin-embedded chronic lymphocytic leukemia/small lymphocytic lymphoma lymphoid tissue biopsy specimens.
Am J Clin Pathol. 2008 Oct;130(4):620-7. PMID: 18794056

Cryptic duplication of 12q24.33 --> qter in a child with Angelman syndrome-simultaneous occurrence of two unrelated cytogenetic events.
Am J Med Genet A. 2007 May 1;143A(9):985-94. PMID: 17394213

Application of multicolor banding for identification of complex chromosome 18 rearrangements.
J Mol Diagn. 2006 Sep;8(4):521-5; quiz 528. PMID: 16931594