✦ LIBER ✦

The cat-eye syndrome

✍ Scribed by Szalay, Glenn C. ;Opitz, John M. ;Reynolds, James F.

Publisher: John Wiley and Sons
Year: 1985
Tongue: English
Weight: 50 KB
Volume: 22
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320220325

No coin nor oath required. For personal study only.

✦ Synopsis

Rosenfeld et al I19841 published a report on a child with manifestations of the cat-eye syndrome, in whom they concluded the marker chromosome was probably not chromosome 22. However, the authors make no reference to the study of Toomey et a1 [ 19771, in which the authors conclude the marker chromosome "is interpreted as the product of a Robertsonian translocation between the short arm and satellites of chromosome 22, and the short arm of another Dor G-group chromosome, most likely 13".

In addition, Rosenfeld et al make no reference to the publication of Guanti [1981], in which the author concludes the small marker chromosome in his patient "is considered to be a chromosome 13 with an interstitial deletion."

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