Characterization of de novo duplications in eight patients by using fluorescence in situ hybridization with chromosome-specific DNA libraries

Journal Article · Tue Jun 01 04:00:00 EDT 1993 · American Journal of Human Genetics; (United States)

OSTI ID:6182700

Leana-Cox, J; Wulfsberg, E; Raffel, L J; Sullivan, B; Schwartz, S ^[1]; Levin, S; Surana, R ^[2]; Keene, C L ^[3]

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1. Univ. of Maryland, Baltimore (United States)
2. Walter Reed Army Medical Center, Washington, DC (United States)
3. Community Hospital, Roanoke Valley, VA (United States)

Fluorescence in situ hybridization (FISH) with chromosome-specific DNA libraries was performed on samples from eight patients with de novo chromosomal duplications. In five cases, the clinical phenotype and/or cytogenetic evaluations suggested a likely origin of the duplicated material. In the remaining three cases, careful examination of the GTG-banding pattern indicated multiple possible origins; hybridization with more than one chromosome-specific library was performed on two of these cases. In all cases, FISH conclusively identified the chromosomal origin of the duplicated material. In addition, the hybridization pattern was useful in quantitatively delineating the duplication in two cases. 21 refs., 2 figs., 1 tab.

• OSTI ID: 6182700
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 52:6; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
ANEUPLOIDY
BANDING TECHNIQUES
CHROMOSOMES
CYTOLOGICAL TECHNIQUES
DETECTION
DNA HYBRIDIZATION
FLUORESCENCE
HUMAN CHROMOSOMES
HYBRIDIZATION
LUMINESCENCE
NUCLEIC ACIDS
OLIGONUCLEOTIDES
ORGANIC COMPOUNDS
ORIGIN
PLOIDY