Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infant

Journal Article · Sun Jan 21 23:00:00 EST 1996 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/(SICI)1096-8628(19960122)61:3<269::AID-AJMG12>3.3.CO;2-6· OSTI ID:426134

Milunsky, J M; Wyandt, H E; Milunsky, A ^[1]

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1. Tufts-New England Medical Center, Boston, MA (United States); and others

We describe a liveborn infant with uniparental disomy (UPD) with trisomy 15 mosaicism. Third trimester amniocentesis yielded a 46,XX/47,XX,+15 karyotype. Symmetrical growth retardation, distinct craniofacies, congenital heart disease, severe hypotonia and minor skeletal anomalies were noted. The infant died at 6 weeks of life. Peripheral lymphocyte chromosomes were {open_quotes}normal{close_quotes} 46,XX in 100 cells. Parental lymphocyte chromosomes were normal. Skin biopsy showed 47,XX,+15 in 80% of fibroblasts and results were equivalent in fibroblasts from autopsy lung tissue. Molecular analysis revealed maternal uniparental heterodisomy for chromosome 15 in the 46,XX cell line. We describe an emerging phenotype of trisomy 15 mosaicism, confirm that more than one tissue should be studied in all cases of suspected mosaicism, and suggest that UPD be considered in all such cases. 19 refs., 2 figs., 1 tab.

• OSTI ID: 426134
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 3 Vol. 61; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
CHROMOSOMAL ABERRATIONS
CONGENITAL DISEASES
CONGENITAL MALFORMATIONS
CROSSING-OVER
GENE RECOMBINATION
GENES
GENETICS
HEREDITARY DISEASES
HUMAN CHROMOSOME 15
INFANTS
KARYOTYPE
MEIOSIS
MOSAICISM
NON-DISJUNCTION
PHENOTYPE