Clinical report: An interstitial deletion of 16p13.11 detected by array CGH in a patient with infantile spasms
Author:
Funder
NIHR CLAHRC for South Yorkshire
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference19 articles.
1. High-resolution analysis of DNA copy number variation using comparative genomic hybridisation to microarrays;Pinkel;Nat. Genet.,1998
2. Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents;Rosenberg;J. Med. Genet.,2006
3. The clinical utility of enhanced subtelomeric coverage in array CGH;Ballif;Am. J. Med. Genet.,2007
4. Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant;Hannes;J. Med. Genet.,2008
5. Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation;Ullmann;Hum. Mutat.,2007
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1. Clinical phenotype of the 16p.13.11 microdeletion: a case report with a mini review of the literature;Frontiers in Genetics;2024-08-16
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3. Prenatal counseling of an isolated fetal small head circumference during the second trimester expert ultrasound examination;European Journal of Obstetrics & Gynecology and Reproductive Biology;2024-03
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5. What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of ‘Internal Medicine for Rare Genetic Syndromes’;Journal of Clinical Medicine;2021-11-22
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