A female patient with partial duplication 22 (q13→qter)

Dagmar Wieczorek*, Jürgen Holtvogt, Sabine Thonig, Gabriele Gillessen-Kaesbach

*Corresponding author for this work
19 Citations (Scopus)


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.

Original languageEnglish
JournalClinical Dysmorphology
Issue number4
Pages (from-to)289-294
Number of pages6
Publication statusPublished - 1998

Research Areas and Centers

  • Research Area: Medical Genetics


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