Deletion of 8q24 in an adult with mild dysmorphic features, developmental delay, and ketotic hypoglycemia

We present a 56‐year‐old female with a history of carbohydrate intolerance and ketotic hypoglycemia, dysmorphic features, mild developmental delay, lymphedema, altered pain sensation, and frequent fractures, who was found to have a heterozygous 8.09 Mb deletion of chromosome 8q24.11q24.13 containing...

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Veröffentlicht in:American journal of medical genetics. Part A 2010-06, Vol.152A (6), p.1545-1549
Hauptverfasser: Solomon, Benjamin D., Lange, Eileen, Shubrook, Jay, Service, F. John, Herman, Gail, Karne, Rajaram J., Gorden, Phillip, Muenke, Maximilian, Stratakis, Constantine A.
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container_issue 6
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container_title American journal of medical genetics. Part A
container_volume 152A
creator Solomon, Benjamin D.
Lange, Eileen
Shubrook, Jay
Service, F. John
Herman, Gail
Karne, Rajaram J.
Gorden, Phillip
Muenke, Maximilian
Stratakis, Constantine A.
description We present a 56‐year‐old female with a history of carbohydrate intolerance and ketotic hypoglycemia, dysmorphic features, mild developmental delay, lymphedema, altered pain sensation, and frequent fractures, who was found to have a heterozygous 8.09 Mb deletion of chromosome 8q24.11q24.13 containing more than 39 genes, as well as a duplication of 20q11.23 containing one gene. The deleted region overlaps that of two previously reported patients, who share a subset of clinical characteristics with the patient described here. Some of this patient's clinical features are consistent with the loss of genes in the deleted region. The diagnostic work‐up of this patient clearly demonstrates the evolution of genetic testing techniques. Published 2010 Wiley‐Liss, Inc.
doi_str_mv 10.1002/ajmg.a.33395
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subjects 8q
8q24
Adult
Biological and medical sciences
Chromosome Deletion
Chromosomes, Human, Pair 8 - genetics
Classical genetics, quantitative genetics, hybrids
Developmental Disabilities - diagnosis
Developmental Disabilities - genetics
Face - abnormalities
Female
Fundamental and applied biological sciences. Psychology
Genetics of eukaryotes. Biological and molecular evolution
Human
Humans
Hypesthesia - diagnosis
Hypesthesia - genetics
Hypoglycemia - diagnosis
Hypoglycemia - genetics
Lymphedema - diagnosis
Lymphedema - genetics
Medical genetics
Medical sciences
microdeletion
Middle Aged
Syndrome
title Deletion of 8q24 in an adult with mild dysmorphic features, developmental delay, and ketotic hypoglycemia
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