Marker chromosome 21 identified by microdissection and FISH

Journal Article · Mon Mar 27 00:00:00 EST 1995 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320560207· OSTI ID:105264

Sun, Y; Palmer, C G ^[1]; Rubinstein, J ^[2]

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1. Indiana Univ. School of Medicine, Indianapolis, IN (United States)
2. Univ. Affiliated Cincinnati Center for Developmental Disorders, OH (United States); and others

A child without Down`s syndrome but with developmental delay, short stature, and autistic behavior was found to be mosaic 46,XX/47,XX,+mar(21) de novo. The marker was a small ring or dot-like chromosome. Microdissection of the marker was performed. The dissected fragments were biotinylated with sequence-independent PCR as a probe pool for fluorescence in situ hybridization (FISH). FISH results suggested an acrocentric origin of the marker. Subsequent FISH with {alpha}-satellite DNA probes for acrocentric chromosomes and chromosome-specific 21 and 22 painting probes confirmed its origin from chromosome 21. 14 refs., 3 figs.

• Sponsoring Organization: USDOE
• OSTI ID: 105264
• Journal Information: American Journal of Medical Genetics, Vol. 56, Issue 2; Other Information: PBD: 27 Mar 1995
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
HUMAN CHROMOSOME 21
CHROMOSOMAL ABERRATIONS
MOSAICISM
DETECTION
PATIENTS
HEREDITARY DISEASES
KARYOTYPE
MENTAL DISORDERS
DNA HYBRIDIZATION
FLUORESCENCE
PROBES
RING CHROMOSOMES
BIOLOGICAL MARKERS
POLYMERASE CHAIN REACTION