# CYTOGENETIC AND MOLECULAR STUDIES OF HUMAN CHROMOSOME 22

> **NIH NIH R01** · CHILDREN'S HOSP OF PHILADELPHIA · 1991 · $260,913

## Abstract

Numerous acquired and inherited pathologic conditions are associated with
chromosome specific translocations or rearrangements.  Chromosome 22,
although quite small, is over involved in such non-random chromosomal
abnormalities.  It is associated with seven distinct malignancies and three
constitutional syndromes of clinical significance.

Developments in molecular biology, especially the ability to analyze large
DNA fragments, have revolutionized the study of chromosomal rearrangements.
One of the aims of this proposal is to prepare a long range physical map of
22q11 using this new technology.  Our mapping strategy is designed to
permit detection and analysis of any rearrangement within this region.
This proposal, however, has a particular focus on the t(11;22) of Ewing's
sarcoma, the t(11;22) of the Supernumerary der(22)t(11;22) syndrome, and
the monosomy of 22q11 seen in association with DiGeorge syndrome.
Completion of the long range map should lead to improved diagnosis for
Ewing's sarcoma and will open new areas of investigation regarding the
basic mechanisms which permit or promote recombination at a chromosomal and
molecular level.  Comparisons between physical and genetic maps will
provide vital information regarding recombinational "hot spots" in the
human genome.  Finally, the identification of specific genes involved in
these non-random chromosomal abnormalities should greatly increase our
understanding of the pathogenesis both of Ewing's tumors and of the
developmental disorders associated with chromosome 22.

The studies we propose represent a logical extension of our previous four
years of work.  They will rely on somatic cell genetic, molecular genetic
and cytogenetic techniques.  The small size and numerous rearrangements of
chromosome 22 make it an excellent model system in which to examine issues
related to genomic organization, chromosomal rearrangement and their role
in human disease.  Our multi-disciplinary approach should accelerate
progress toward achieving a map of chromosome 22 and will assist in
elucidating the biological significance of its numerous disease-related
abnormalities.

## Key facts

- **NIH application ID:** 3179293
- **Project number:** 5R01CA039926-07
- **Recipient organization:** CHILDREN'S HOSP OF PHILADELPHIA
- **SAM.gov UEI:** G7MQPLSUX1L4
- **Principal Investigator:** BEVERLY S EMANUEL
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 1991
- **Award amount:** $260,913
- **Award type:** 5
- **Project period:** 1985-01-01 → 1995-04-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/3179293

## Citation

> US National Institutes of Health, RePORTER application 3179293, CYTOGENETIC AND MOLECULAR STUDIES OF HUMAN CHROMOSOME 22 (5R01CA039926-07). Retrieved via MORVS 2026-10-25 from https://api.morvs.ai/grant/nih/3179293. Licensed CC0.

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