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Deletion of 8q24 in an adult with mild dysmorphic features, developmental delay, and ketotic hypoglycemia
Author(s) -
Solomon Benjamin D.,
Lange Eileen,
Shubrook Jay,
Service F. John,
Herman Gail,
Karne Rajaram J.,
Gorden Phillip,
Muenke Maximilian,
Stratakis Constantine A.
Publication year - 2010
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33395
Subject(s) - hypoglycemia , gene duplication , genetics , medicine , gene , pediatrics , biology , endocrinology , diabetes mellitus
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.