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Kurt Hirschhorn

  • PROFESSORIAL LECTURER Genetics and Genomic Sciences
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  • Clinical Cytogenetics

  • Clinical Genetics

  • Clinical Biochemical Genetics

  • American Board of Internal Medicine


  • MD, New York University

  • Residency, Internal Medicine
    New York University Medical Center

  • Residency, Internal Medicine
    New York University Medical Center

  • Fellowship, Metabolism
    Bellevue Hospital

  • Fellowship, Genetics
    State Institute of Human Genetics

  • Fellowship, Research
    American Heart Association


1.    Cytogenetics
a.    Use of molecular and cytogenetic techniques such as in situ hybridization, comparative genomic hybridization (CGH) and/or FISH for refined diagnosis and mapping of genetic loci.
 b.    Chromosomal Abnormalities: Use of chromosome elongation (late prophase preparations), newer banding techniques and FISH to characterize structural alterations in chromosomes of parents with congenital malformation syndromes and in couples with infertility/recurrent miscarriages.
2.    Clinical Genetics/Prenatal Diagnosis:
a.    Application of genetic technology to the diagnosis, management and treatment of patients and families with genetic disease.
b.    Delineation of new syndromes.
c.    Genetic counseling methodology and assessment.
d.    Prenatal Genetics: Studies designed to develop new and improved  methods for the prenatal diagnosis and/or treatment of chromosomal, biochemical or multifactorial disorders.   Preimplantation diagnosis by CGH to detect chromosomal abnormalities in polar bodies and 8-cell embryos.    Application of molecular diagnostic techniques for precise diagnosis of disorders whose genes are expressed in specific tissues.  Analysis of fetal cells in maternal blood and in the endocervical canal.


Immunodeficiency Disorders. In: Hirschhorn K, Hirschhorn R, editors. Emery's & Rimoin's Principles and Practice of Medical Genetics. Philadelphia, Churchill Livingstone; pp1835-1856.

Shaffer LG, Bocian M, Hirschhorn K, Schwartz S, Shapiro LR. American College of Medical Genetics guideline on the cytogenetic evaluation for the individual with developmental delay or mental retardation. Genet. in Med 2005; 7: 650-654.

Menasha J, Kardon NB, Hirschhorn K, Levy B. Incidence and spectrum of chromosome abnormalities in spontaneous abortions: New insights from a 12-year study. Genet. Med 2005; 7: 251-263.

Bergemann AD, Hirschhorn K, Cole F. The Etiology of the Wolf-Hirschhorn Syndrome. Trends in Genetics 2005; 21: 188-195.

Oleskey C, Fleischman A, Goldman L, Hirschhorn K, McCally M, Lappe M, Marshall MF, Needleman H, Rhodes R, Landrigan PJ. Pesticide testing in Humans: Ethics and Public Policy. Environmental Health Perspectives 2004; 112: 914-919.

Hirschhorn K, Diaz GA, editors. Molecular Genetics: Developmental and Clinical Implications. Saunders; pp16-25.

Characterization of Constitutional Chromosome Abnormalities by Comparative Genomic Hybridization. In: Hirschhorn K, Levy B, editors. New Jersey, Humana Press; pp121-132.

Wells D, Escudero T, Levy B, Munn S, Cohen J, Delhanty JA, Hirschhorn K. First clinical application of comparative genomic hybridization and polar body testing for preimplantation genetic diagnosis of aneuploidy. Fertil. Steril 2002; 78: 543-549.

Li S, Malafiej P, Levy B, Mahmood M, Field M, Hughes T, Warburton PE, Wu Z, Huang M, Hirschhorn K, Velagaleti GV, Daniel A, Lockhart LH. Chromosome 13q neocentromeres: Molecular cytogenetic characterization of three additional cases and clinical specturm. Am. J. Med. Genet 2002; 110: 258-267.

Topaloglu AK, Willner JP, Hirschhorn K, Levy B. Inherited duplication of Xq27.1-qter detected by comparative genomic hybridization in a male with seizure disorder: Report of a patient and review of the literature. Ann. Med. Sci 2002; 11: 7-12.

Industry Relationships

Physicians and scientists on the faculty of the Icahn School of Medicine at Mount Sinai often interact with pharmaceutical, device and biotechnology companies to improve patient care, develop new therapies and achieve scientific breakthroughs. In order to promote an ethical and transparent environment for conducting research, providing clinical care and teaching, Mount Sinai requires that salaried faculty inform the School of their relationships with such companies.

Dr. Hirschhorn did not report having any of the following types of financial relationships with industry during 2012 and/or 2013: consulting, scientific advisory board, industry-sponsored lectures, service on Board of Directors, participation on industry-sponsored committees, equity ownership valued at greater than 5% of a publicly traded company or any value in a privately held company. Please note that this information may differ from information posted on corporate sites due to timing or classification differences.

Mount Sinai's faculty policies relating to faculty collaboration with industry are posted on our website at Patients may wish to ask their physician about the activities they perform for companies.

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Tel: 212-241-4305
Fax: 212-426-4371
Annenberg Building

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New York, NY 10029

Tel: 212-241-4303
Fax: 212-426-4371
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