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

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

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

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

Istituto "Giannina Gaslini"

Research output: Contribution to journal › Article › peer-review

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

Cite this

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

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.",

keywords = "cat-eye syndrome, imprinting effect, inv dup (22), maternal origin",

author = "R. Tupler and A. Hoeller and A. Pezzolo and P. Maraschio",

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journal = "Annales de Genetique",

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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

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AN - SCOPUS:0028597355

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JO - Annales de Genetique

JF - Annales de Genetique

SN - 0003-3995

IS - 3

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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