Goldenhar sequence and mosaic trisomy 22

Journal Article · Mon Dec 04 04:00:00 EST 1995 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320590402· OSTI ID:443758

Pridjian, G; Gill, W L; Shapira, E ^[1]

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1. Tulane Univ. School of Medicine, New Orleans, LA (United States)

We describe a term infant with facio-auriculo-vertebral {open_quotes}dysplasia{close_quotes} (Goldenhar sequence), hypertelorism, and mosaic trisomy 22: peripheral blood, 46, XY/47, XY,+22 (72%/28%); skin fibroblasts, 47, XY,+22(100%). This is the second report of Goldenbar anomaly with epibulbar dermoids in a live-born infant with aneuploidy. Hypertelorism is rare in Goldenhar sequence, but typical of trisomy 22. We recommend chromosome analysis in all patients with Goldenhar sequence. Those with hypertelorism may be more likely to have aneuploidy as well. 19 refs., 3 figs.

• Sponsoring Organization: USDOE
• OSTI ID: 443758
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 4 Vol. 59; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
ANEUPLOIDY
CHROMOSOMAL ABERRATIONS
CONGENITAL MALFORMATIONS
DNA SEQUENCING
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 22
INFANTS
KARYOTYPE
MOSAICISM
PHENOTYPE