| Chromosomal mosaicism in the Killian/Teschler-Nicola syndrome. | |
| | |
MedLine Citation:
|
PMID: 3740095 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
We report a patient with the Killian/Teschler-Nicola/Pallister mosaic syndrome in association with a cytogenetic abnormality. This patient is the first reported to have lymphocyte mosaicism for an isochromosome of 12p. All other patients with the Killian syndrome have had normal lymphocyte karyotypes, although mosaicism for a similar isochromosome of 12p has been reported in the fibroblasts of most patients with the Killian syndrome. |
| | |
Authors:
|
L J Raffel; T Mohandas; D L Rimoin |
Related Documents
:
|
7759065 - 22q11 deletions in isolated and syndromic patients with tetralogy of fallot. 21056805 - Anesthesia considerations for patients with de barsy syndrome. 19950085 - Therapeutic methods used in patients with eisenmenger syndrome. 20661405 - Autoimmune hepatitis in patients with primary sjögren's syndrome: a series of two-hund... 21092805 - Acute aortic syndrome. 14551865 - Ampullary carcinoid tumor presenting as acute pancreatitis in a patient with von reckli... |
Publication Detail:
|
Type: Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
|
Title: American journal of medical genetics Volume: 24 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1986 Aug |
Date Detail:
|
Created Date: 1986-09-17 Completed Date: 1986-09-17 Revised Date: 2007-11-14 |
Medline Journal Info:
|
Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
|
Languages: eng Pagination: 607-11 Citation Subset: IM |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Abnormalities, Multiple
/
genetics* Alopecia / genetics Chromosome Aberrations / genetics* Chromosome Disorders Chromosomes, Human, 6-12 and X / ultrastructure* Face / abnormalities Female Humans Infant, Newborn Mental Retardation / genetics* Mosaicism* Phenotype Syndrome |
| Grant Support | |
ID/Acronym/Agency:
|
GM 07414/GM/NIGMS NIH HHS; HD 19966/HD/NICHD NIH HHS |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Spondylocostal/spondylothoracic dysostosis: the clinical basis for prognosticating and genetic couns...
Next Document: Duplication (12q) syndrome in female cousins, resulting from maternal (11;12) (p15.5;q24.2) transloc...