10p Duplication characterized by fluorescence in situ hybridization

Journal Article · Thu Sep 01 04:00:00 EDT 1994 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320520312· OSTI ID:54876

Wiktor, A; Feldman, G L; Van Dyke, D L; Kratkoczki, P; Ditmars, Jr, D M ^[1]

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1. Henry Ford Hospital, Detroit, MI (United States)

We describe a patient with severe failure to thrive, mild-moderate developmental delay, cleft lip and palate, and other anomalies. Routine cytogenetic analysis documented a de novo chromosome rearrangement involving chromosome 4, but the origin of the derived material was unknown. Using chromosome specific painting probes, the karyotype was defined as 46,XY,der(4)t(4;10)(q35;p11.23). Characterization of the dup(10p) by fluorescence in situ hybridization (FISH) analysis provides another example of the usefulness of this technology in identifying small deletions, duplications, or supernumerary marker chromosomes. 19 refs., 4 figs.

• Sponsoring Organization: USDOE
• OSTI ID: 54876
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 3 Vol. 52; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
CHROMOSOMAL ABERRATIONS
CONGENITAL DISEASES
FLUORESCENCE
GENETIC MAPPING
HUMAN CHROMOSOMES
HYBRIDIZATION
KARYOTYPE