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 |
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Keywords
- cat-eye syndrome
- imprinting effect
- inv dup (22)
- maternal origin
ASJC Scopus subject areas
- Genetics
Cite this
Maternal derivation of inv dup (22) and clinical variation in cat-eye syndrome. / Tupler, R.; Hoeller, A.; Pezzolo, A.; Maraschio, P.
In: Annales de Genetique, Vol. 37, No. 3, 1994, p. 153-155.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Maternal derivation of inv dup (22) and clinical variation in cat-eye syndrome
AU - Tupler, R.
AU - Hoeller, A.
AU - Pezzolo, A.
AU - Maraschio, P.
PY - 1994
Y1 - 1994
N2 - 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.
AB - 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.
KW - cat-eye syndrome
KW - imprinting effect
KW - inv dup (22)
KW - maternal origin
UR - http://www.scopus.com/inward/record.url?scp=0028597355&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0028597355&partnerID=8YFLogxK
M3 - Article
C2 - 7847799
AN - SCOPUS:0028597355
VL - 37
SP - 153
EP - 155
JO - Annales de Genetique
JF - Annales de Genetique
SN - 0003-3995
IS - 3
ER -