Tetrasomy 15q12 in a patient with Angelman-like syndrome
- Univ. of Missouri School of Medicine, Kansas City, MO (United States)
- National Center for Human Genome Research, Bethesda, MD (United States); and others
Supernumerary psu dic(15;15) chromosomes make up approximately 40% of livebirths possessing marker chromosomes. Markers with various chromosomal contents as well as a spectrum of phenotypes have been described. A few individuals with Angelman syndrome (AS) who have paternal uniparental disomy (UPD) for chromosome 15 or a 15q12 deletion in addition to a supernumerary psu dic(15;15) have been reported. We studied a patient who had a clinical phenotype consistent with AS including ataxic gait, severe mental retardation, absent speech and inappropriate laughter. Cytogenetic and FISH analysis showed a 47,XX,+psu dic(15q12;15q12) karyotype in which the supernumerary chromosome was positive for DNA probes in the AS critical region. Additional molecular analyses confirmed the presence of four copies of the 15q11{r_arrow}13 segment and that the psu dic(15;15) was maternal in origin. Two distal chromosome 15 markers showed normal, biparental inheritance for the two normal 15 homologues. A patient similar to ours was outlined by Stupca et al., although results of DNA analyses and parental origin were not given. In both patients, tetrasomy 15q12 resulted in an AS phenotype. The significance of the ratio of maternally:paternally derived sequences, 3:1 in our case, is unknown at present.
- OSTI ID:
- 135558
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-0479
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
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