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Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions

(2011) EUROPEAN JOURNAL OF HUMAN GENETICS. 19(10). p.1032-1037
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Abstract
The introduction of array CGH in clinical diagnostics has led to the discovery of many new microdeletion/microduplication syndromes. Most of them are rare and often present with a variable range of clinical anomalies. In this study we report three patients with a de novo overlapping microdeletion of chromosome bands 12q15q21.1. The deletions are similar to 2.5Mb in size, with a 1.34-Mb common deleted region containing six RefSeq genes. All three patients present with learning disability or developmental delay, nasal speech and hypothyroidism. In this paper we will further elaborate on the genotype-phenotype correlation associated with this deletion and compare our patients with previously reported cases.
Keywords
nasal speech, array CGH, 12q15 microdeletions, hypothyroidism, INTERSTITIAL DELETION, MENTAL-RETARDATION, CCR4-NOT COMPLEX, CLEFT-LIP, MICE, ABNORMALITIES, RECEPTORS, ISOFORMS, HKCNMB3, CLONING

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Chicago
Vergult, Sarah, Danijela Krgovic, Bart Loeys, Stanislas Lyonnet, Agne Liedén, Britt-Marie Anderlid, Freddie Sharkey, Shelagh Joss, Geert Mortier, and Björn Menten. 2011. “Nasal Speech and Hypothyroidism Are Common Hallmarks of 12q15 Microdeletions.” European Journal of Human Genetics 19 (10): 1032–1037.
APA
Vergult, S., Krgovic, D., Loeys, B., Lyonnet, S., Liedén, A., Anderlid, B.-M., Sharkey, F., et al. (2011). Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions. EUROPEAN JOURNAL OF HUMAN GENETICS, 19(10), 1032–1037.
Vancouver
1.
Vergult S, Krgovic D, Loeys B, Lyonnet S, Liedén A, Anderlid B-M, et al. Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions. EUROPEAN JOURNAL OF HUMAN GENETICS. 2011;19(10):1032–7.
MLA
Vergult, Sarah, Danijela Krgovic, Bart Loeys, et al. “Nasal Speech and Hypothyroidism Are Common Hallmarks of 12q15 Microdeletions.” EUROPEAN JOURNAL OF HUMAN GENETICS 19.10 (2011): 1032–1037. Print.
@article{1227205,
  abstract     = {The introduction of array CGH in clinical diagnostics has led to the discovery of many new microdeletion/microduplication syndromes. Most of them are rare and often present with a variable range of clinical anomalies. In this study we report three patients with a de novo overlapping microdeletion of chromosome bands 12q15q21.1. The deletions are similar to 2.5Mb in size, with a 1.34-Mb common deleted region containing six RefSeq genes. All three patients present with learning disability or developmental delay, nasal speech and hypothyroidism. In this paper we will further elaborate on the genotype-phenotype correlation associated with this deletion and compare our patients with previously reported cases.},
  author       = {Vergult, Sarah and Krgovic, Danijela and Loeys, Bart and Lyonnet, Stanislas and Lied{\'e}n, Agne and Anderlid, Britt-Marie and Sharkey, Freddie and Joss, Shelagh and Mortier, Geert and Menten, Bj{\"o}rn},
  issn         = {1018-4813},
  journal      = {EUROPEAN JOURNAL OF HUMAN GENETICS},
  keyword      = {nasal speech,array CGH,12q15 microdeletions,hypothyroidism,INTERSTITIAL DELETION,MENTAL-RETARDATION,CCR4-NOT COMPLEX,CLEFT-LIP,MICE,ABNORMALITIES,RECEPTORS,ISOFORMS,HKCNMB3,CLONING},
  language     = {eng},
  number       = {10},
  pages        = {1032--1037},
  title        = {Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions},
  url          = {http://dx.doi.org/10.1038/ejhg.2011.67},
  volume       = {19},
  year         = {2011},
}

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