منابع مشابه
Heterotaxia syndromes and 22q11 deletion.
1 Binedell J, Soldan JR, Harper PS. Selection for presymptomatic testing for Huntington's disease: who decides? J Med Genet 1996;33:1734. 2 World Federation of Neurology: Research Committee Research Group. Ethical issues policy statement on Huntington's disease molecular genetics predictive test. J Neurol Sci 1989;94: 327-32. 3 Clinical practice in medical genetics. Guidelines for the molecular...
متن کامل22q11 deletion syndrome: current perspective
Chromosome 22q11 is characterized by the presence of chromosome-specific low-copy repeats or segmental duplications. This region of the chromosome is very unstable and susceptible to mutations. The misalignment of low-copy repeats during nonallelic homologous recombination leads to the deletion of the 22q11.2 region, which results in 22q11 deletion syndrome (22q11DS). The 22q11.2 deletion is as...
متن کاملHypoparathyroidism and 22q11 deletion syndrome.
AIMS To investigate a population of individuals with 22q11 deletion syndrome for hypocalcaemia. METHODS A detailed clinical history enquiring into symptoms of hypocalcaemia and blood sampling to assess for hypocalcaemia and hypoparathyroidism, of patients outside the neonatal period known to have the 22q11 microdeletion from fluorescent in situ hybridisation studies was taken. RESULTS Sixty...
متن کاملNoonan's and DiGeorge syndromes with monosomy 22q11.
A boy with the dysmorphic features of Noonan's syndrome and pulmonary valve stenosis who had evidence of hypoparathyroidism and abnormal T lymphocyte numbers in the neonatal period is reported. He had a normal karyotype but molecular analysis revealed a submicroscopic deletion within chromosome 22q11, the region deleted in DiGeorge syndrome. Thus this child has both Noonan's syndrome and DiGeor...
متن کاملGrowth charts for 22q11 deletion syndrome.
The purpose of this work was to create growth curves specific to the 22q11.2 deletion syndrome. Growth parameters on 188 patients (86 females, 102 males) followed by a group of three dysmorphologists were collected by retrospective chart review. Growth charts for body mass, length/height, and head circumference were generated using a semi-parametric model with goodness-of-fit tests. The resulti...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2000
ISSN: 1460-2083
DOI: 10.1093/hmg/9.16.2421