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Trisomy 22 with 'cat eye' anomaly.

The case of a 10-month-old girl with an extra G-like chromosome is presented. Quinacrine, trypsin-Giemsa, and reverse banding identified the extra chromosome as no. 22. The phenotype of the patient is unique in that unilateral iris coloboma was observed, unlike the 18 cases of full trisomy 22 alread...

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Hlavní autoři: Cervenka, J, Hansen, C A, Franciosi, R A, Gorlin, R J
Médium: Artigo
Jazyk:Inglês
Vydáno: 1977
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1013589/
https://ncbi.nlm.nih.gov/pubmed/336892
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