Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture

Journal Article · Mon Aug 28 00:00:00 EDT 1995 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320580211· OSTI ID:466718

Harrison, K ^[1]; Eisenger, K; Brown, S ^[2]

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1. Morristown Memorial Hospital, NJ (United States)
2. Columbia Univ., New York, NY (United States); and others

We describe the first case of a baby with maternal uniparental disomy of chromosome 2. Growth failure, hypothyroidism, and hyaline membrane disease were present at birth, and the first year of life was complicated by bronchopulmonary dysplasia. At age 14 months, motor and intellectual development were normal, but growth remained below the 10th centile. The baby was investigated for uniparental disomy because trisomy 2 mosaicism had been detected in a second trimester amniocentesis. This is the first reported case in which amniotic fluid chromosome mosaicism has been associated with uniparental disomy. Implications for prenatal diagnosis are considered. 26 refs., 4 figs.

• Sponsoring Organization: USDOE
• OSTI ID: 466718
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 2 Vol. 58; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
AMNIOTIC FLUID
BIOLOGICAL MARKERS
CHROMOSOMAL ABERRATIONS
CONGENITAL DISEASES
DIAGNOSIS
DNA HYBRIDIZATION
FETUSES
FLUORESCENCE
GENETIC MAPPING
GENETICS
HEREDITARY DISEASES
HUMAN CHROMOSOME 2
MOSAICISM
NEONATES
ONTOGENESIS
SEX DEPENDENCE