Identification of a ring chromosome as a ring 8 using fluorescent in situ hybridization (FISH) in a child with multiple congenital anomalies

Journal Article · Mon Jul 03 00:00:00 EDT 1995 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320570328· OSTI ID:105216

Butler, M G; Roback, E W; Allen, G A ^[1]

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1. Genetic Associates, Nashville, TN (United States)

We read with interest the report by Melnyk and Dewald of a small supernumerary ring chromosome 8 identified by fluorescence in situ hybridization (FISH) in a child with developmental delay and minor anomalies. Although ring chromosomes resulting in loss of parts of chromosome 8 have been reported, Melnyk and Dewald reported the first small ring chromosome 8 diagnosed by FISH. Previously nonsatellited markers derived from chromosomes 1, 3, 6, 9, 11, 13-16, 18, 20, 21, and X have been identified using FISH. Their study illustrated the value of FISH techniques in identifying the chromosomal source of markers or rings.

• Sponsoring Organization: USDOE
• OSTI ID: 105216
• Journal Information: American Journal of Medical Genetics, Vol. 57, Issue 3; Other Information: PBD: 3 Jul 1995
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
HUMAN CHROMOSOME 8
CHROMOSOMAL ABERRATIONS
RING CHROMOSOMES
DNA HYBRIDIZATION
ACCURACY
PATIENTS
CONGENITAL MALFORMATIONS
FLUORESCENCE
BANDING TECHNIQUES
BIOLOGICAL MARKERS