2q31.1 microdeletion syndrome: redefining the associated clinical phenotype
نویسندگان
چکیده
منابع مشابه
2q31.1 microdeletion syndrome: redefining the associated clinical phenotype.
INTRODUCTION The clinical phenotype of the chromosome 2q31 deletion syndrome consists of limb anomalies ranging from monodactylous ectrodactyly, brachydactyly and syndactyly to camptodactyly. Additional internal organ anomalies-for example, heart defects, ocular anomalies-may be present. Hemizygosity for HOXD13 and EVX2 genes was thought to cause the observed skeletal defects. Recently, based o...
متن کاملComplex phenotype associated with 17q21.31 microdeletion.
We report on a patient carrying a 17q21.31 microdeletion and exhibiting many common syndrome features, together with other clinical signs which have rarely or never been described to date. The detected 695-kb 17q21.31 deletion is larger than in most previously reported cases but is still probably the result of recombination between flanking low-copy repeats. Due to the complexity of the patient...
متن کاملClinical and molecular delineation of the 17q21.31 microdeletion syndrome.
BACKGROUND The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has originally been identified using high resolution genome analyses in patients with unexplained mental retardation. AIM We report the molecular and/or clinical characterisation of 22 individuals with the 17q21.31 microdeletion syndrome. RESULTS We estimate the prevalence of the syndrome to be 1 in 1...
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BACKGROUND Chromosome 15q24 microdeletion syndrome is a rare genomic disorder characterised by intellectual disability, growth retardation, unusual facial morphology and other anomalies. To date, 20 patients have been reported; 18 have had detailed breakpoint analysis. AIM To further delineate the features of the 15q24 microdeletion syndrome, the clinical and molecular characterisation of fif...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2010
ISSN: 0022-2593,1468-6244
DOI: 10.1136/jmg.2010.079491