Identification and molecular characterization of a small chromosome 10q duplication [dir dup (10) (q24.2-24.3)] inherited from a mother mosaic for the abnormality
- Univ. of Texas Southwestern Medical Center at Dallas, TX (United States); and others
Inheritance of a cytogenetic abnormality from a clinically normal parent who is mosaic for the anomaly is rare event, although recent data suggest that such events may be more frequent than originally thought. The identification of such cases can have important implications for genetic counseling and can offer valuable resources for the mapping and analysis of genes involved in human disease and development. We describe a family in which two siblings exhibited developmental delay and very specific neurological abnormalities which included normal muscle mass but reduced muscle tone and mild muscle weakness. Cytogenetic evaluation revealed that both children had inherited a tandem duplication of a small portion of the long arm of chromosome 10 [dir dup (10) (q24.2-24.3)]. The clinically normal mother was found to be mosaic for the duplication which was identified in only two of the twenty metaphases examined. Fluorescence in situ hybridization approaches, including total chromosome painting and the use of previously characterized regional-specific cosmid probes, were used to confirm and characterize the chromosome 10q origin of the duplicated material. This represents the smallest confirmed duplication of distal chromosome 10q reported to date.
- OSTI ID:
- 133772
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-0504
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
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