Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization
- Karolinska Hospital, Stockholm (Sweden); and others
Extra structurally abnormal chromosomes (ESACs) are small supernumerary chromosomes often associated with developmental abnormalities and malformations. We present 50 probands with ESACs characterized by fluorescence in situ hybridization using centromere-specific probes and chromosome-specific libraries. ESAC-specific libraries were constructed by flow sorting and subsequent amplification by DOP-PCR. Using such ESAC-specific libraries we were able to outline the chromosome regions involved. Twenty-three of the 50 ESACs were inverted duplications of chromosome 15 (inv dup(15)), including patients with normal phenotypes and others with similar clinical symptoms. These 2 groups differed in size and shape of the inv dup(15). Patients with a large inv dup(15), which included the Prader-Willi region, had a high risk of abnormality, whereas patients with a small inv dup(15), not including the Prader-Willi region, were normal. ESACs derived from chromosomes 13 or 21 appeared to have a low risk of abnormality, while one out of 3 patients with an ESAC derived from chromosome 14 had discrete symptoms. One out of 3 patients with an ESAC derived from chromosome 22 had severe anomalies, corresponding to some of the manifestations of the cat eye syndrome. Small extra ring chromosomes of autosomal origin and ESACs identified as i(12p) or i(18p) were all associated with a high risk of abnormality. 42 refs., 2 figs., 2 tabs.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 91105
- Journal Information:
- American Journal of Medical Genetics, Vol. 55, Issue 1; Other Information: PBD: 2 Jan 1995
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
BASIC STUDIES
HUMAN CHROMOSOMES
CHROMOSOMAL ABERRATIONS
PATIENTS
MENTAL DISORDERS
CONGENITAL MALFORMATIONS
PHENOTYPE
DNA HYBRIDIZATION
FLUORESCENCE
CENTROMERES
PROBES
POLYMERASE CHAIN REACTION
RING CHROMOSOMES
HUMAN CHROMOSOME 13
HUMAN CHROMOSOME 15
HUMAN CHROMOSOME 21
HUMAN CHROMOSOME 22
HUMAN CHROMOSOME 12
HUMAN CHROMOSOME 18
BIOLOGICAL MARKERS