Trisomy 7 and Potter syndrome

Solveig M.V. Pflueger; Charles I.Scott Jr; Charleen M. Moore

doi:10.1111/j.1399-0004.1984.tb00499.x

Trisomy 7 and Potter syndrome

Solveig M.V. Pflueger, Charles I.Scott Jr, Charleen M. Moore

Department of Cell Systems & Anatomy

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

24 Scopus citations

Abstract

A patient with mosaic trisomy 7 and features of Potter syndrome is described. The patient was the product of a 35‐week gestation and survived fourteen hours, demise being attributed to respiratory insufficiency. Autopsy confirmed pulmonary hypoplasia and renal agenesis. Additional findings included malformed, low‐set ears, a flattened nasal bridge, redundant nuchal skin, positional deformation of the extremities, rocker‐bottom feet, and clitorimegaly. Cytogenetic study of peripheral blood and skin fibroblast culture revealed mosaicism for full trisomy 7, the skin showing 12% of the cells to have an extra 7. Comparison with one previously confirmed case of trisomy 7 and two cases of trisomy C suggests a correlation between trisomy 7 and Potter syndrome.

Original language	English (US)
Pages (from-to)	543-548
Number of pages	6
Journal	Clinical Genetics
Volume	25
Issue number	6
DOIs	https://doi.org/10.1111/j.1399-0004.1984.tb00499.x
State	Published - Jun 1984

Keywords

Chromosome 7
Potter syndrome
congenital malformations
renal agenesis
trisomy

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1111/j.1399-0004.1984.tb00499.x

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title = "Trisomy 7 and Potter syndrome",

abstract = "A patient with mosaic trisomy 7 and features of Potter syndrome is described. The patient was the product of a 35‐week gestation and survived fourteen hours, demise being attributed to respiratory insufficiency. Autopsy confirmed pulmonary hypoplasia and renal agenesis. Additional findings included malformed, low‐set ears, a flattened nasal bridge, redundant nuchal skin, positional deformation of the extremities, rocker‐bottom feet, and clitorimegaly. Cytogenetic study of peripheral blood and skin fibroblast culture revealed mosaicism for full trisomy 7, the skin showing 12% of the cells to have an extra 7. Comparison with one previously confirmed case of trisomy 7 and two cases of trisomy C suggests a correlation between trisomy 7 and Potter syndrome.",

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Trisomy 7 and Potter syndrome

Abstract

Keywords

ASJC Scopus subject areas

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