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 associa
Goldenhar sequence and mosaic trisomy 22
โ Scribed by Pridjian, Gabriella ;Gill, William L. ;Shapira, Emmanuel
- Book ID
- 101446586
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 341 KB
- Volume
- 59
- Category
- Article
- ISSN
- 0148-7299
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I have read with great interest the paper by Crowe et al. [1997]. It is an excellent clinical and cytogenetic review of trisomy 22 in its various manifestations. I only wish to point out that the first proven case (by G-banding) of trisomy 22 appeared in 1973, in a paper in which we demonstrated the
In a case of mosaic trisomy 22 the trisomic cells were detected primarily in fibroblasts. Results of initial lymphocyte chromosome analysis were normal. However, mosaicism was suspected because the patient had hypomelanosis of Ito, hemiatrophy, failure to thrive, and mental retardation. Mosaicism wa
Mosaic trisomy 22, ascertained in three unrelated patients, was found to be associated with body asymmetry and signs of the Ullrich-Turner syndrome including short stature, ptosis, webbed neck, nevi, cubitus valgus, dysplastic nails, malformed great vessels, and abnormal ovaries. These anomalies in