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Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: An update of the phenotypic map
American journal of medical genetics. Part A, 2007-08, Vol.143A (16), p.1858-1867
Feenstra, Ilse
Vissers, Lisenka E.L.M.
Orsel, Mirjam
van Kessel, Ad Geurts
Brunner, Han G.
Veltman, Joris A.
van Ravenswaaij-Arts, Conny M.A.
2007
Details
Autor(en) / Beteiligte
Feenstra, Ilse
Vissers, Lisenka E.L.M.
Orsel, Mirjam
van Kessel, Ad Geurts
Brunner, Han G.
Veltman, Joris A.
van Ravenswaaij-Arts, Conny M.A.
Titel
Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: An update of the phenotypic map
Ist Teil von
American journal of medical genetics. Part A, 2007-08, Vol.143A (16), p.1858-1867
Ort / Verlag
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Erscheinungsjahr
2007
Link zum Volltext
Quelle
Wiley Online Library Journals Frontfile Complete
Beschreibungen/Notizen
Partial deletions of the long arm of chromosome 18 lead to variable phenotypes. Common clinical features include a characteristic face, short stature, congenital aural atresia (CAA), abnormalities of the feet, and mental retardation (MR). The presence or absence of these clinical features may depend on the size and position of the deleted region. Conversely, it is also known that patients whose breakpoints are localized within the same chromosome band may exhibit distinct phenotypes. New molecular techniques such as array CGH allow for a more precise determination of breakpoints in cytogenetic syndromes, thus leading to better‐defined genotype–phenotype correlations. In order to update the phenotypic map for chromosome 18q deletions, we applied a tiling resolution chromosome 18 array to determine the exact breakpoints in 29 patients with such deletions. Subsequently, we linked the genotype to the patient's phenotype and integrated our results with those previously published. Using this approach, we were able to refine the critical regions for microcephaly (18q21.33), short stature (18q12.1‐q12.3, 18q21.1‐q21.33, and 18q22.3‐q23), white matter disorders and delayed myelination (18q22.3‐q23), growth hormone insufficiency (18q22.3‐q23), and CAA (18q22.3). Additionally, the overall level of MR appeared to be mild in patients with deletions distal to 18q21.33 and severe in patients with deletions proximal to 18q21.31. The critical region for the ‘typical’ 18q‐phenotype is a region of 4.3 Mb located within 18q22.3‐q23. Molecular characterization of more patients will ultimately lead to a further delineation of the critical regions and thus to the identification of candidate genes for these specific traits. © 2007 Wiley‐Liss, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1552-4825
eISSN: 1552-4833
DOI: 10.1002/ajmg.a.31850
Titel-ID: cdi_proquest_miscellaneous_68120203
Format
–
Schlagworte
18q deletion syndrome
,
Abnormalities, Multiple - diagnosis
,
Biological and medical sciences
,
chromosome 18
,
Chromosome Aberrations
,
Chromosome Deletion
,
Chromosome Mapping
,
Chromosomes, Human, Pair 18
,
Classical genetics, quantitative genetics, hybrids
,
cytogenetic analysis
,
DNA Mutational Analysis
,
Fundamental and applied biological sciences. Psychology
,
Genetics of eukaryotes. Biological and molecular evolution
,
Genotype
,
genotype-phenotype mapping
,
Human
,
Humans
,
Karyotyping
,
Medical genetics
,
Medical sciences
,
Nucleic Acid Hybridization
,
Oligonucleotide Array Sequence Analysis - methods
,
Phenotype
,
Syndrome
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