Abstract
Cytogenetic analysis in a male child with dismorphies and renal anomalies showed an extra bisatellited chromosome. In situ hybridization and an analysis of cytogenetic polymorphisms revealed that the abnormal chromosome derived from a single maternal chromosome 22.
| Original language | English |
|---|---|
| Pages (from-to) | 153-155 |
| Number of pages | 3 |
| Journal | Annales de Genetique |
| Volume | 37 |
| Issue number | 3 |
| Publication status | Published - 1994 |
Keywords
- cat-eye syndrome
- imprinting effect
- inv dup (22)
- maternal origin
ASJC Scopus subject areas
- Genetics
Fingerprint Dive into the research topics of 'Maternal derivation of inv dup (22) and clinical variation in cat-eye syndrome'. Together they form a unique fingerprint.
Cite this
Tupler, R., Hoeller, A., Pezzolo, A., & Maraschio, P. (1994). Maternal derivation of inv dup (22) and clinical variation in cat-eye syndrome. Annales de Genetique, 37(3), 153-155.