منابع مشابه
A de novo Deletion of Chromosome 18p With Persistent Limb Tremor and Difficulty Speaking: A Case Report
The common causes of 18p deletion syndrome are spontaneous errors in the chromosomal structure in the early stages of human embryonic development. In this study, a 29-year-old girl was introduced with the features of deletion of chromosome 18. In addition, GTG banding karyotype revealed that this case had a deletion involving the short arm of chromosome 18. In comparison with the usual phenotyp...
متن کاملA lethal presentation of de novo deletion 7q.
Deletion of 7q32----qter is a well defined syndrome which usually arises de novo. The proband we report was the result of an uncomplicated 36 week first pregnancy of non-consanguineous Oriental parents. The male infant died shortly after birth. Chromosome studies of peripheral blood and umbilical cord revealed 46,XY,del(7), apparently (q32----qter). The parents' karyotypes were normal. The obse...
متن کاملidentification of a de novo 3bp deletion in cryba1/a3 gene in autosomal dominant congenital cataract
autosomal dominant congenital cataract (adcc) is the most common form of inherited cataracts and accounts for one-third of congenital cataracts. heterozygous null mutations in the crystallin genes are the major cause of the adcc. this study aims to detect the mutational spectrum of four crystallin genes, cryba1/a3 , crybb1 , crybb2 and crygd in an iranian family. genomic dna was isolated from w...
متن کامل[De novo SCN1A gene deletion in therapy-resistant Dravet syndrome].
Severe myoclonic epilepsy in infancy (Dravet's syndrome) is a very rare form of epilepsy. Mutations of SCN1A gene encoding voltage-gated sodium channel alpha-1 subunit are major causes of the autosomal dominant disorder. Most cases are associated with a de novo point mutation, but some patients have copy number variations. The protein encoded by the SCN1A gene plays a role in the generation and...
متن کاملA case of de novo interstitial deletion 3q.
A rare chromosome abnormality consisting of interstitial deletion 3q was found in a malformed girl. Chromosome analysis using G and Q banding showed deletion of bands 3q12----3q21: 46,XX,del(3)(pter----q12::q21----qter). The clinical features of the proband included severe psychomotor retardation, craniofacial asymmetry, hypertelorism, epicanthus, high arched palate, progressive scoliosis, mult...
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ژورنال
عنوان ژورنال: Human Genetics
سال: 1985
ISSN: 0340-6717,1432-1203
DOI: 10.1007/bf00389471