| Segregation ratio in cranio-cerebello-cardiac syndrome. | |
| | |
MedLine Citation:
|
PMID: 16736035 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
According to several authors cranio-cerebello-cardiac (3C) syndrome is an autosomal recessive disorder. This opinion was based on pedigree inspection without formal segregation analysis. Recently, the assumption of autosomal recessive inheritance was challenged by the observation of overlapping features with 6p deletions. We therefore performed segregation analysis by means of methods described by Li and Mantel, Davie and Lange on 27 pedigrees selected from literature. The results of all three methods are consistent with autosomal recessive inheritance but their broad confidence intervals leave room for other explanations as well. Reporting of 3C cases without evaluation of 6p copy number should be discouraged from now on. |
| | |
Authors:
|
Harm-Jan Stellingwerff; Johanna M van Hagen; Leo P ten Kate |
Related Documents
:
|
20045495 - Proteomic analysis of amniotic fluid in pregnancies with klinefelter syndrome foetuses. 2933525 - Abnormally high sweat osmolality in children with down's syndrome. 9654775 - Biotransformation of shiromodiol diacetate, myli-4(15)-en-9-one and myliol by aspergill... 15155285 - (mis)use of factor analysis in the study of insulin resistance syndrome. 1071875 - New approaches to the management of the wolff-parkinson-white syndrome. 22068615 - Role of the cag repeat polymorphism of the androgen receptor gene in polycystic ovary s... |
Publication Detail:
|
Type: Journal Article Date: 2006-05-31 |
Journal Detail:
|
Title: European journal of human genetics : EJHG Volume: 14 ISSN: 1018-4813 ISO Abbreviation: Eur. J. Hum. Genet. Publication Date: 2006 Sep |
Date Detail:
|
Created Date: 2006-08-24 Completed Date: 2006-09-26 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 9302235 Medline TA: Eur J Hum Genet Country: England |
Other Details:
|
Languages: eng Pagination: 1054-7 Citation Subset: IM |
Affiliation:
|
Department of Clinical Genetics and Human Genetics, VU University Medical Center, Amsterdam, The Netherlands. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Craniofacial Abnormalities
/
genetics* Female Genes, Recessive Heart Defects, Congenital / genetics* Humans Male Models, Genetic* Pedigree Sex Ratio |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: A summary statistic approach to sequence variation in noncoding regions of six schizophrenia-associa...
Next Document: Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of...