# A PROGRAM OF RESEARCH IN POPULATION CYTOGENETICS

> **NIH NIH R01** · CASE WESTERN RESERVE UNIVERSITY · 1994 · $308,424

## Abstract

Utilizing material from chromosomally abnormal fetuses and live-born
individuals and their parents, we intend to combine cytogenetic and
molecular techniques to:

1) Study the mechanism of origin of sex chromosome trisomy.  We will
determine the parent and meiotic stage of origin of the 47,XXY, 47,XYY, and
47,XXX conditions, determine the relationship between parental origin of
trisomy and parental age, and test the hypothesis that abnormally high or
low levels of recombination contribute to non-disjunction involving the X
and Y chromosome.

2) Study the mechanism of origin of sex chromosome monosomy.  We will
determine the parental origin of the error leading to the 45,X condition,
and evaluate the hypothesis that mosaicism for a second sex chromosome is
responsible for the survival of most, if not all, liveborn 45,X
conceptuses.

3) Study the mechanism of origin of trisomy 21 in leukemic Down Syndrome
individuals to determine if a correlation exists between the timing or
parental source of non-disjunction and predisposition to leukemia.

4) Evaluate the hypothesis that the human X chromosome is imprinted.
Specifically, we will combine DNA polymorphism analysis with studies of
methylation to evaluate inactivation patterns of maternally and paternally
derived X chromosome in embryonic and extra-embryonic tissues, and compare
the phenotype and X-linked methylation patterns of 45,X conceptuses having
a single maternally derived X chromosome with those having a single
paternal X.

## Key facts

- **NIH application ID:** 2198230
- **Project number:** 5R01HD021341-11
- **Recipient organization:** CASE WESTERN RESERVE UNIVERSITY
- **SAM.gov UEI:** HJMKEF7EJW69
- **Principal Investigator:** TERRY J HASSOLD
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 1994
- **Award amount:** $308,424
- **Award type:** 5
- **Project period:** 1988-01-01 → 1996-01-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/2198230

## Citation

> US National Institutes of Health, RePORTER application 2198230, A PROGRAM OF RESEARCH IN POPULATION CYTOGENETICS (5R01HD021341-11). Retrieved via MORVS 2026-10-25 from https://api.morvs.ai/grant/nih/2198230. Licensed CC0.

---

*[NIH grants dataset](/datasets/nih-grants) · CC0 1.0*