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First clinical case of small de novo duplication of 19q (13.3-13.4) confirmed by FISH

✍ Scribed by Bhat, M.; Morrison, P.J.; Getty, A.; McManus, D.; Tubman, R.; Nevin, N.C.

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 18 KB
Volume: 91
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(20000320)91:3<201::aid-ajmg9>3.0.co;2-y

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✦ Synopsis

Partial trisomy of 19q has been reported in only 13 patients, of which all but one have been due to unbalanced translocations. Only one previous report of a de novo duplication of distal 19q has been described in a fetal chorionic villus sample. There was no description of clinical phenotype in this report. We describe the clinical manifestations and cytogenetic analysis in a child with an inverted duplication of 19q 13.3 to 13.4 confirmed by FISH using a chromosome 19 whole chromosome probe. This case represents the first report of a liveborn with "pure" distal trisomy 19q. Findings defining this uncommon aneusomy are a flat facies, down turned mouth, abnormal ears, and a short neck with redundant skin folds.

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