Maternal derivation of inv dup (22) and clinical variation in cat-eye syndrome

R. Tupler, A. Hoeller, A. Pezzolo, P. Maraschio

Research output: Contribution to journalArticle

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 languageEnglish
Pages (from-to)153-155
Number of pages3
JournalAnnales de Genetique
Volume37
Issue number3
Publication statusPublished - 1994

Fingerprint

Cytogenetic Analysis
Chromosomes
Mothers
Chromosomes, Human, Pair 22
In Situ Hybridization
Kidney
Schmid-Fraccaro syndrome

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 journalArticle

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, vol. 37, no. 3, pp. 153-155.
Tupler, R. ; Hoeller, A. ; Pezzolo, A. ; Maraschio, P. / Maternal derivation of inv dup (22) and clinical variation in cat-eye syndrome. In: Annales de Genetique. 1994 ; Vol. 37, No. 3. pp. 153-155.
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