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Can I read Trisomy 22 and facioauriculovertebral (Goldenhar) sequence on EtoBox?
Trisomy 22 and facioauriculovertebral (Goldenhar) sequence by Lisa Kobrynski; David Chitayat; Laila Zahed; David McGregor; Louise Rochon; Seymour Brownstein; Michael Vekemans; Darren L. Albert is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is Trisomy 22 and facioauriculovertebral (Goldenhar) sequence about?
We report on an infant girl born with complete trisomy 22 and left hemifacial microsomia, ear anomaly, and limbal and epibulbar complex choristoma. Trisomy 22 was cmfirmed by prometaphase chromosome analysis and in situ hybridization. This patient extends the list of chromosome abnormalities associated with apparent Goldenhar sequence and emphasizes the importance of chromosome analysis in the investigation of patients with this condition. A detailed ophthalmopathological investigation is reported.
Who reads Trisomy 22 and facioauriculovertebral (Goldenhar) sequence?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- Lisa Kobrynski; David Chitayat; Laila Zahed; David McGregor; Louise Rochon; Seymour Brownstein; Michael Vekemans; Darren L. Albert
- Publisher
- John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 0148-7299)
- Published
- 1993
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)