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Unusual in vivo rearrangements of the Y chromosome with mitotic instability in vitro

✍ Scribed by J. P. Fryns; J. J. Cassiman; H. Berghe

Publisher: Springer
Year: 1978
Tongue: English
Weight: 351 KB
Volume: 44
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00394301

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✦ Synopsis

An unusual structural rearrangement of the Y chromosome resulting in seven different cell lines was found in a male infant with coronal synostosis as the only major clinical symptom. At least three different events must have occurred to explain the patient's karyotype: nondisjunction, chromosome breakage followed by translocation, and tetraploidization followed by somatic recombination. In addition, the structurally abnormal Y chromosome appeared to be unstable in vitro.

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