Distinct phenotype in maternal uniparental disomy of chromosome 14

Journal Article · Wed Jun 01 04:00:00 EDT 1994 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320510213· OSTI ID:67942

Healey, S; Chenevix-Trench, G ^[1]; McGill, J ^[2]; Battersby, M

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1. Queensland Institute of Medical Research, Brisbane (Australia)
2. Univ. of Queensland, Brisbane (Australia)

We report on the occurrence of maternal uniparental disomy for chromosome 14 (mUPD14) in a 4-year-old girl with a de novo Robertsonian translocation, 45,XX,t (13q,14q). The child has arrested hydrocephalus, short stature, minor anomalies, small hands with hyperextensible joints, and mild to moderate developmental delay. Comparison of her phenotype with those of three previously described individuals show some common distinct traits which suggest a mUPD14 syndrome. 5 refs., 3 figs., 2 tabs.

• OSTI ID: 67942
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 2 Vol. 51; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
CHROMOSOMAL ABERRATIONS
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 14
MALFORMATIONS
PHENOTYPE