Interstitial deletion of chromosome 2q associated with ovarian dysgenesis

Everett Davis; M. Grafe; Christopher Cunniff; Kenneth Lyons Jones; Mark Bogart

doi:10.1111/j.1399-0004.1991.tb03047.x

Interstitial deletion of chromosome 2q associated with ovarian dysgenesis

Everett Davis, M. Grafe, Christopher Cunniff, Kenneth Lyons Jones, Mark Bogart

Pediatrics

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

19 Scopus citations

Abstract

In the present report we describe a girl with mental retardation, Dandy‐Walker malformation, craniofacial anomalies, cardiac defect, and ovarian dysgenesis associated with an interstitial deletion of chromosome 2. The interstitial deletion in the proband was associated with an apparently balanced translocation involving chromosomes 2 and 7 in the father.

Original language	English (US)
Pages (from-to)	386-390
Number of pages	5
Journal	Clinical Genetics
Volume	39
Issue number	5
DOIs	https://doi.org/10.1111/j.1399-0004.1991.tb03047.x
State	Published - May 1991

Keywords

deletion 2q
ovarian dysgenesis

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1111/j.1399-0004.1991.tb03047.x

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title = "Interstitial deletion of chromosome 2q associated with ovarian dysgenesis",

abstract = "In the present report we describe a girl with mental retardation, Dandy‐Walker malformation, craniofacial anomalies, cardiac defect, and ovarian dysgenesis associated with an interstitial deletion of chromosome 2. The interstitial deletion in the proband was associated with an apparently balanced translocation involving chromosomes 2 and 7 in the father.",

keywords = "deletion 2q, ovarian dysgenesis",

author = "Everett Davis and M. Grafe and Christopher Cunniff and Jones, {Kenneth Lyons} and Mark Bogart",

year = "1991",

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AU - Davis, Everett

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AU - Jones, Kenneth Lyons

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N2 - In the present report we describe a girl with mental retardation, Dandy‐Walker malformation, craniofacial anomalies, cardiac defect, and ovarian dysgenesis associated with an interstitial deletion of chromosome 2. The interstitial deletion in the proband was associated with an apparently balanced translocation involving chromosomes 2 and 7 in the father.

AB - In the present report we describe a girl with mental retardation, Dandy‐Walker malformation, craniofacial anomalies, cardiac defect, and ovarian dysgenesis associated with an interstitial deletion of chromosome 2. The interstitial deletion in the proband was associated with an apparently balanced translocation involving chromosomes 2 and 7 in the father.

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KW - ovarian dysgenesis

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Interstitial deletion of chromosome 2q associated with ovarian dysgenesis

Abstract

Keywords

ASJC Scopus subject areas

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