Array based characterization of a terminal deletion involving chromosome subband 15q26.2: an emerging syndrome associated with growth retardation, cardiac defects and developmental delay-Reference-Cited by-同舟云学术

Array based characterization of a terminal deletion involving chromosome subband 15q26.2: an emerging syndrome associated with growth retardation, cardiac defects and developmental delay

Published:2008-01-14 Issue:1 Volume:9 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Davidsson Josef,Collin Anna,Björkhem Gudrun,Soller Maria

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/1471-2350-9-2.pdf

Reference31 articles.

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2. Ravnan JB, Tepperberg JH, Papenhausen P, Lamb AN, Hedrick J, Eash D, Ledbetter DH, Martin CL: Subtelomere FISH analysis of 11688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disablities. J Med Genet. 2005, 43: 478-489. 10.1136/jmg.2005.036350.

3. Schinzel A: Catalogue Of Unbalanced Chromosome Aberrations In Man 2'nd Revised And Expanded Edition. 2001, New York, Walter de Gruyter

4. Roback EW, Barakat AJ, Dev VG, Mbikay M, Chretien M, Butler MG: An infant with deletion of the distal long arm of chromosome 15 (q26.1----qter) and loss of insulin-like growth factor 1 receptor gene. Am J Med Genet. 1991, 38: 74-79. 10.1002/ajmg.1320380117.

5. Siebler T, Lopaczynski W, Terry CL, Casella SJ, Munson P, De Leon DD, Phang L, Blakemore KJ, McEvoy RC, Kelley RI: Insulin-like growth factor I receptor expression and function in fibroblasts from two patients with deletion of the distal long arm of chromosome 15. J Clin Endocrinol Metab. 1995, 80: 3447-3457. 10.1210/jc.80.12.3447.

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