Puzzling pieces of chromosome 7 loss or deletion
نویسندگان
چکیده
منابع مشابه
Lck activation: puzzling the pieces together
T cells are central players in the immune defense, but if deregulated they may also mediate the development of pathological conditions and diseases. Therefore, how T-cell functions are regulated is the focus of intense research since many years. Important steps forward in our understanding of the molecular mechanisms underlying T-cell biology have been made recently. These advances have allowed...
متن کاملAn interstitial deletion of chromosome 7(q35).
We describe a patient with developmental delay, mild dysmorphic features, and monosomy of 7q35. Only one other patient with an interstitial deletion of this band has been previously reported. A review of clinical features of these two children did not show similarities in dysmorphic features. Reports of patients with other 7q interstitial deletions are listed.
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Interstitial deletions of the long arm of chromosome 3 have, to our knowledge, been reported in only eleven patients; detailed genotype- phenotype correlations are not well established. Here we describe a case with interstitial deletion involving 3q25.33 region. Dysmorphic features and developmental delay lead to clinical genetic and enzyme assessment. Low alpha-hexosaminidase level is also not...
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The use of radiographic images in dentistry to diagnose caries and other dental diseases has always been inevitable. Almost half of all dental caries are diagnosed only by radiography. However, given the benefits of this method for diagnosing the disease, X-ray examinations have undeniable risks for the patient due to the use of ionizing radiation and their improper use increases the risk of th...
متن کاملChromosome 11q13 deletion syndrome
Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular coloboma in some cases. The underlying genetic defect causing otodental syndrome is a hemizygous microdeletion involving the FGF3 gene on chromosome ...
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ژورنال
عنوان ژورنال: Blood
سال: 2018
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood-2018-04-844746