| Further delineation of 17p13.3 microdeletion involving CRK. The effect of growth hormone treatment. | |
| | |
MedLine Citation:
|
PMID: 22085993 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
|
Recently, a 17p13.3 microdeletion syndrome characterized by significant postnatal growth retardation, mild to moderate mental retardation and facial dysmorphic manifestations has been delineated to a small region within the area of the Miller-Dieker syndrome critical region. We report a boy with a 284 kb deletion within the Miller-Dieker critical region including CRK, but not involving YWHAE and TUSC5. He showed mental retardation and had significant postnatal growth retardation. Further, he had slight facial and limb abnormalities. Cerebral MRI, including visualization of the pituitary gland, disclosed no abnormalities. The findings in the present case indicate, that CRK may also be involved in the facial phenotype of the 17p13.3 microdeletion syndrome, and that CRK, and not YWHAE, seems to be involved in limb malformations. The effect of growth hormone treatment in CRK-deficient children is discussed. |
| | |
Authors:
|
John R Ostergaard; Jesper Graakjær; Carsten Brandt; Niels H Birkebæk |
Related Documents
:
|
9873063 - Regulation of phosphatidylinositol 4-phosphate 5-kinase from schizosaccharomyces pombe ... 21996933 - Morphological integration of soft-tissue facial morphology in down syndrome and siblings. 7362393 - Pulmonary carcinoid tumor associated with nephrotic syndrome. |
Publication Detail:
|
Type: JOURNAL ARTICLE Date: 2011-10-24 |
Journal Detail:
|
Title: European journal of medical genetics Volume: - ISSN: 1878-0849 ISO Abbreviation: - Publication Date: 2011 Oct |
Date Detail:
|
Created Date: 2011-11-16 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 101247089 Medline TA: Eur J Med Genet Country: - |
Other Details:
|
Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
|
Copyright © 2011 Elsevier Masson SAS. All rights reserved. |
Affiliation:
|
Centre for Rare Diseases, Department of Paediatrics A, Aarhus University Hospital, Skejby. Brendstrupsgaardvej 100, DK-8200 Aarhus N, Denmark. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Tityus zulianus venom induces massive catecholamine release from PC12 cells and in a mouse envenomat...
Next Document: A novel homozygous 5bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient.