Document Detail


Interstitial 6q deletion: clinical and array CGH characterisation of a new patient.
MedLine Citation:
PMID:  16179229     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report on a patient with an interstitial 6q deletion presenting with moderate mental retardation, persisting hypotonia, facial dysmorphism, but no internal malformations. Standard cytogenetic analysis identified a de novo interstitial 6q deletion. Molecular karyotyping using a 1 Mb array estimated the size of the deletion at approximately 14 Mb encompassing band q16 of chromosome 6. This case report illustrates how the molecular delineation enables improved genotype-phenotype correlations of chromosomal abnormalities to be made and may improve medical care and genetic counselling in individuals with chromosomal imbalances.
Authors:
Cédric Le Caignec; Ann Swillen; Elvire Van Asche; Jean-Pierre Fryns; Joris R Vermeesch
Related Documents :
12749059 - Absence of 12q21.2q22 deletions and subtelomeric rearrangements in cardiofaciocutaneous...
8230159 - High resolution mapping of interstitial long arm deletions of chromosome 16: relationsh...
15889419 - Another case of interstitial del(12) involving the proposed cardio-facio-cutaneous cand...
9580159 - The mechanisms involved in formation of deletions and duplications of 15q11-q13.
8411039 - Mild phenotypic manifestation of a 7p15.3p21.2 deletion.
9414289 - Molecular delineation of 13q deletion boundaries in 20 patients with myeloid malignancies.
18713369 - Behavior of meiotic chromosomes in pinus wallichiana, p. strobus and their hybrid and n...
11805059 - Telomere elongation (tel), a new mutation in drosophila melanogaster that produces long...
2651409 - Exchange of chromosomal and plasmid alleles in escherichia coli by selection for loss o...
Publication Detail:
Type:  Case Reports; Evaluation Studies; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  European journal of medical genetics     Volume:  48     ISSN:  1769-7212     ISO Abbreviation:  Eur J Med Genet     Publication Date:    2005 Jul-Sep
Date Detail:
Created Date:  2005-09-23     Completed Date:  2005-11-09     Revised Date:  2008-05-28    
Medline Journal Info:
Nlm Unique ID:  101247089     Medline TA:  Eur J Med Genet     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  339-45     Citation Subset:  IM    
Affiliation:
Centre for Human Genetics, University Hospital Gasthuisberg, Herestraat 49, 3000 Leuven, Belgium. lecaignec@hotmail.com
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Child, Preschool
Chromosome Deletion*
Chromosomes, Human, Pair 6 / genetics*
Craniofacial Abnormalities / diagnosis,  genetics*
Female
Genomic Instability
Humans
Mental Retardation / diagnosis,  genetics*
Muscle Hypotonia / diagnosis,  genetics*
Oligonucleotide Array Sequence Analysis / methods
Syndrome

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


Previous Document:  Small reciprocal insertion detected by spectral karyotyping (SKY) and delimited by array-CGH analysi...
Next Document:  Narrowing the deleted region associated with the 15q21 syndrome.