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A female patient with partial duplication 22 (q13-->qter)
D Wieczorek1, J Holtvogt, S Thonig
1Institut für Humangenetik, Universitätsklinikum Essen, Germany. dagmar.wieczorek@uni-essen.de
Clinical Dysmorphology
|November 21, 1998
Abstract:
We report on a 9-month-old female patient with pre- and postnatal growth retardation, hypertelorism, bilateral cleft lip and palate, and a peripheral pulmonary stenosis. High resolution banding and fluorescent in situ hybridization (FISH) revealed a de novo partial trisomy 22q13-qter. We compare the clinical findings to published patients with this rare chromosomal aberration and discuss the chromosomal differential diagnosis. Facial features at first sight suggestive of Wolf-Hirschhorn syndrome may be an additional, previously undescribed clinical sign in some patients with partial trisomy 22q.