Document Detail


Genotype-phenotype correlation of 5p-syndrome: pitfall of diagnosis.
MedLine Citation:
PMID:  15602631     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
To clarify the genotype-phenotype correlation of 5p- syndrome, FISH analyses were performed for six patients by using a series of probes spanning 5p13.1-p15.33. Genotypically, break points of deletion were quite different. Three of the six patients were diagnosed as interstitial deletion on chromosome 5p by G-banding method and FISH analysis; however, all of them proved to be entire distal deletions of 5p caused by unbalanced chromosomal translocations. Furthermore, one 5p- syndrome patient was diagnosed only by the FISH analysis using a single probe but not by ordinary chromosomal analyses. Therefore, when ordinary chromosomal analysis cannot detect any deletion in a patient who is phenotypically suspected of 5p- syndrome, multiple FISH analysis or parental chromosomal analysis would be needed for correct diagnosis. Interestingly, one patient with terminal deletion between 5p15.31-pter lacks mental retardation and cat-like crying, indicating that this region might not be responsible for those cardinal features of 5p- syndrome. Further studies on genotype-phenotype correlation will help us better understand 5p- syndrome and also determine functional mapping of the 5p region.
Authors:
Tatsuro Kondoh; Osamu Shimokawa; Naoki Harada; Tomoki Doi; Chyuns Yun; Yuji Gohda; Fumiko Kinoshita; Tadashi Matsumoto; Hiroyuki Moriuchi
Publication Detail:
Type:  Case Reports; Journal Article     Date:  2004-12-16
Journal Detail:
Title:  Journal of human genetics     Volume:  50     ISSN:  1434-5161     ISO Abbreviation:  J. Hum. Genet.     Publication Date:  2005  
Date Detail:
Created Date:  2005-02-03     Completed Date:  2005-03-07     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9808008     Medline TA:  J Hum Genet     Country:  Japan    
Other Details:
Languages:  eng     Pagination:  26-9     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Nagasaki University School of Medicine, 1-7-1 Sakamoto, Nagasaki, 852-8501, Japan. kontatsu@net.nagasaki-u.ac.jp
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Child
Child, Preschool
Chromosome Banding
Chromosome Breakage
Chromosome Deletion
Chromosomes, Human, Pair 5 / genetics
Cri-du-Chat Syndrome / diagnosis*,  genetics*
Female
Genotype
Humans
In Situ Hybridization, Fluorescence
Infant
Male
Phenotype

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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