Rare presentation of 6q16.3 microdeletion syndrome with severe upper limb reduction defects and duodenal atresia

Megan L Donahue; Luis O Rohena

doi:10.1002/ccr3.916

Rare presentation of 6q16.3 microdeletion syndrome with severe upper limb reduction defects and duodenal atresia

Megan L Donahue, Luis O Rohena

Pediatrics

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

Abstract

We present a patient with a 17.31 MB interstitial deletion of 6q16.3-6q22.31, who demonstrates a unique constellation of 6q- features. Among 6q- patients, he has limb reduction among the most severe reported, he is the second patient with duodenal atresia, and is the first documented case of diaphragmatic eventration.

Original language	English
Pages (from-to)	905-914
Number of pages	10
Journal	Clinical Case Reports
Volume	5
Issue number	6
DOIs	https://doi.org/10.1002/ccr3.916
State	Published - Jun 2017

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10.1002/ccr3.916

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title = "Rare presentation of 6q16.3 microdeletion syndrome with severe upper limb reduction defects and duodenal atresia",

abstract = "We present a patient with a 17.31 MB interstitial deletion of 6q16.3-6q22.31, who demonstrates a unique constellation of 6q- features. Among 6q- patients, he has limb reduction among the most severe reported, he is the second patient with duodenal atresia, and is the first documented case of diaphragmatic eventration.",

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AB - We present a patient with a 17.31 MB interstitial deletion of 6q16.3-6q22.31, who demonstrates a unique constellation of 6q- features. Among 6q- patients, he has limb reduction among the most severe reported, he is the second patient with duodenal atresia, and is the first documented case of diaphragmatic eventration.

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