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Euchromatic 16p + heteromorphism: First report in North America

✍ Scribed by Jalal, S. M. ;Schneider, Nancy R. ;Kukolich, Mary K. ;Wilson, Golder N.

Publisher: John Wiley and Sons
Year: 1990
Tongue: English
Weight: 257 KB
Volume: 37
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320370426

No coin nor oath required. For personal study only.

✦ Synopsis

A heteromorphism of the short arm of 16 (16p + ) was discovered in 2 unrelated infants. By G banding, the euchromatic variant appears as a light and a medium dark band just distal to the centromere. This results in an increase of the short arm by about 113. The same variant was present in the normal father and the normal paternal grandmother in one family and mildly retarded mother in the 2nd family. The anomalies of the 2 infants are not similar and are apparently unrelated to the 16p + variant. Though the discovery of such euchromatic variants is highly significant for clinical diagnosis, their genetic significance and mode of origin remain to be elucidated.

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