3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome
نویسندگان
چکیده
منابع مشابه
Clinical 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...
متن کاملFurther clinical and molecular delineation of the 15q24 microdeletion syndrome
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...
متن کاملClinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation.
Chromosome 17q21.31 microdeletion was one of the first genomic disorders identified by chromosome microarrays. We report here the clinical and molecular characterization of a new series of 14 French patients with this microdeletion syndrome. The most frequent clinical features were hypotonia, developmental delay and facial dysmorphism, but scaphocephaly, prenatal ischemic infarction and percept...
متن کامل5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases.
The 5q31.3 microdeletion syndrome has recently emerged as a distinct clinical entity, and we report two new patients with de novo deletions of this region, bringing the total to seven. Similarly to previously reported cases, the phenotype of our patients is characterized by marked hypotonia, apnea, developmental delay, and feeding difficulties. Both patients had abnormal movements which did not...
متن کاملChromosome 15q24 microdeletion syndrome
Chromosome 15q24 microdeletion syndrome is a recently described rare microdeletion syndrome that has been reported in 19 individuals. It is characterized by growth retardation, intellectual disability, and distinct facial features including long face with high anterior hairline, hypertelorism, epicanthal folds, downslanting palpebral fissures, sparse and broad medial eyebrows, broad and/or depr...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2005
ISSN: 0002-9297
DOI: 10.1086/431653