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.
Originalsprache | Englisch |
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Zeitschrift | Clinical Dysmorphology |
Jahrgang | 7 |
Ausgabenummer | 4 |
Seiten (von - bis) | 289-294 |
Seitenumfang | 6 |
ISSN | 0962-8827 |
DOIs | |
Publikationsstatus | Veröffentlicht - 1998 |
Strategische Forschungsbereiche und Zentren
- Querschnittsbereich: Medizinische Genetik