A Behavioral Phenotype in the de Lange Syndrome
نویسندگان
چکیده
منابع مشابه
Behavioural phenotype of Cornelia de Lange syndrome.
A postal questionnaire was used to study 49 individuals with Cornelia de Lange syndrome (including both the classical and the mild forms) to ascertain behavioural phenotype. Ages ranged from early childhood to adulthood (mean age, 10.2 years; SD, 7.8) and the degree of mental retardation from borderline (10%), through mild (8%), moderate (18%), and severe (20%) to profound (43%). A wide variety...
متن کاملCornelia De Lange Syndrome and Cochlear Implantation
Introduction: Literature regarding the different degrees of hearing loss in patients with Cornelia de Lange syndrome (CDLS) reports that half of the affected patients exhibit severe to profound sensorineural hearing loss. We present the first pre-school child with CDLS who underwent cochlear implantation for congenital profound sensorineural hearing loss. Case Report: A 3-year-old boy with CD...
متن کاملGenotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age.
Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder associated with unusual facial features, limb abnormalities, a wide range of health conditions, and intellectual disability. Mutations in five genes that encode (SMC1A, SMC3, RAD21) or regulate (NIPBL, HDAC8) the cohesin complex have been identified in up to 70% of individuals. Genetic cause remains unknown for a proportion of ...
متن کاملBehavioral Phenotype and Autism Spectrum Disorders in Cornelia de Lange Syndrome
Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by distinctive facial features, growth retardation, limb abnormalities, intellectual disability, and behavioral problems. Cornelia de Lange syndrome is associated with abnormalities on chromosomes 5, 10 and X. Heterozygous point mutations in three genes (NIPBL, SMC3 and SMC1A), are responsible for approximately 50-60% of C...
متن کاملThe De Lange Syndrome.
This is a book which clinical geneticists and those interested in malformations will enjoy looking at and reading. It is probably best bought together with the companion volumes rather than in isolation. It supplements but does not replace other illustrated catalogues which have been recently published on the malformation syndromes. Alzheimer's disease is a moderately infrequent form of preseni...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1976
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-197610000-00006