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Prenatal Diagnosis of Mosaic Trisomy 20 in Fetus with Diaphragmatic Hernia

K. Fordham, L. Estabrooks, L. Izquierdo

Prenatal diagnosis of supernumerary marker chromosomes derived from chromosome 6.

B. Huang, P. Pearle, J. Philipson, P. Cotter

Primary Meningeal Sarcomastsis: A Case Report with Cytogenetic Findings and a Review of the Literature

C.R. Pierson, K. Ligon, L. Guomnerova, K., Ritchkind, U. DeGirolami

Prospective study of 22q11 deletion analysis in fetuses with excess nuchal translucency

A.E. Donnenfeld, D. Cutillo, J. Horwitz, J. Knops.
Genzyme Genetics

Refined risk of UPD associated with prenatally-detected inv dup(15) Chromosomes

B Huang and AN Lamb

Risk estimates for women who receive both first and second trimester Down syndrome screening

P. Benn, A.E. Donnenfeld.
University of Connecticut; Genzyme Genetics

Screening Amniotic Fluid Samples With Indications of Cardiac Defects for 22q11.2 Deletions
Searching for patients with the 22q11.2 duplication syndrome: Confirmation that some patients have phenotypic overlap with DiGeorge/Velocardiofacial Syndrome

A. Lamb1, R. Kumar1, 3, J.E. Pellegrino2, D. Chavez2, T. Morris1, P. Challinor1, J.B. Ravnan1
1Cytogenetics, Genzyme Genetics, Santa Fe, NM.; 2Inst Genetic Medicine, St Peter's Med Ctr, New Brunswick, NJ; 3Univ Connecticut, Storrs, CT

SMN1 Allele Frequencies in the Major Ethnic Groups within North America

Hendrickson, Brant C.1; Donohoe, Colin1; Akmaev, Viatcheslav R.1; Sugarman, Elaine1; Labrousse, Paul1; Boguslavskiy, Leonid1; Flynn, Kerry1; Rohlfs, Elizabeth M. 1; Allitto, Bernice1; Sears, Christopher2; Scholl, Thomas1
1Genzyme Genetics, Westborough, MA; 2Department of Hematology and Oncology, Children's Hospital, Boston, MA

Sonographic findings in fetuses with de novo and inherited balanced chromosome rearrangements; a series of 1,955 cases

Barbara Goldin1, Meira Shaham2, Alan E. Donnenfeld1
1Genzyme Genetics, Philadelphia, PA; 2Genzyme Genetics, Yonkers, NY

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