How to cite this article: Martinet D, Filges I, Besuchet Schmutz N, Morris MA, Gaide A-C, Dahoun S, Bottani A, Addor M-C, Antonarakis SE, Beckmann JS, Béna F. 2008. Subtelomeric 6p deletion: Clinical and array-CGH characterization in two patients. Am J Med Genet Part A 146A:2094–2102.
Subtelomeric 6p deletion: Clinical and array-CGH characterization in two patients†
Article first published online: 15 JUL 2008
Copyright © 2008 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 146A, Issue 16, pages 2094–2102, 15 August 2008
How to Cite
Martinet, D., Filges, I., Besuchet Schmutz, N., Morris, M. A., Gaide, A.-C., Dahoun, S., Bottani, A., Addor, M.-C., Antonarakis, S. E., Beckmann, J. S. and Béna, F. (2008), Subtelomeric 6p deletion: Clinical and array-CGH characterization in two patients. Am. J. Med. Genet., 146A: 2094–2102. doi: 10.1002/ajmg.a.32414
- Issue published online: 25 JUL 2008
- Article first published online: 15 JUL 2008
- Manuscript Accepted: 8 APR 2008
- Manuscript Received: 26 OCT 2007
- Geneva University Hospitals
- chromosome 6p deletion;
- eye abnormalities;
- developmental delay;
- inv del dup(6)
We report on two patients with de novo subtelomeric terminal deletion of chromosome 6p. Patient 1 is an 8-month-old female born with normal growth parameters, typical facial features of 6pter deletion, bilateral corectopia, and protruding tongue. She has severe developmental delay, profound bilateral neurosensory deafness, poor visual contact, and hypsarrhythmia since the age of 6 months. Patient 2 is a 5-year-old male born with normal growth parameters and unilateral hip dysplasia; he has a characteristic facial phenotype, bilateral embryotoxon, and moderate mental retardation. Further characterization of the deletion, using high-resolution array comparative genomic hybridization (array-CGH; Agilent Human Genome kit 244 K), revealed that Patient 1 has a 8.1 Mb 6pter-6p24.3 deletion associated with a contiguous 5.8 Mb 6p24.3-6p24.1 duplication and Patient 2 a 5.7 Mb 6pter-6p25.1 deletion partially overlapping with that of Patient 1. Complementary FISH and array analysis showed that the inv del dup(6) in Patient 1 originated de novo. Our results demonstrate that simple rearrangements are often more complex than defined by standard techniques. We also discuss genotype–phenotype correlations including previously reported cases of deletion 6p. © 2008 Wiley-Liss, Inc.