Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Fragile X syndrome is one of the most frequent causes of hereditary mental retardation. In the past, its diagnosis depended primarily on cytogenetic demonstration of chromosome fragile site Xq27.3. Recently, the gene FMR-1 has been found responsible for this disease. Here a combined method was used to study fragile X syndrome. A fragment (pP1fr) of DNA was subcloned from pE5.1 by polymerase chain reaction. With this probe, DNA samples from two cytogenetically proved families were analyzed by restriction fragment length polymorphisms. It was demonstrated that EcoRI polymorphism was an easy and accurate method for diagnosis of the fragile X syndrome. To study methylation status of patients, another methylation-sensitive enzyme, BssHII, could be used together with EcoRI. The PstI polymorphism of one family was also studied and showed one kb fragment as normal, and detected more precise changes in length. Prominent mosaicism necessary was characteristic in PstI polymorphism. The DNA diagnosis of fragile X syndrome was a reliable method.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Fragile-X mental retardation--a combination of cytogenetic and molecular approaches, with greater emphasis on DNA analysis. 837 65

A full-term female neonate presented with facial port-wine stain, cutaneous telangiectasia, left facial hemihypertrophy, and left hemimegalencephaly at birth and subsequently developed hypertrophic change of left limb. She fit the diagnostic criteria of Klippel-Trenaunay-Weber syndrome. However, it was an unusual variant of this syndrome because the patient had left facial hemihypertrophy, left hemimegalencephaly and ipsilateral ventriculomegaly. Although patients with hemimegalencephaly are commonly thought to be associated with neurological defects, such as developmental delay, mental retardation and intractable seizure, she had normal neurological development and no seizure was detectable until two years of age.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Klippel-Trenaunay-Weber syndrome with hemimegalencephaly: report of one case. 893 15

Mucopolysaccharidosis (MPS) includes a group of lysosomal storage diseases. Among them, type III (Sanfilippo) disease is rarely described in Taiwan because of their complexity. With accurate quantifying and precise separation of urinary glycosaminoglycans (GAGs), and specific enzyme measurements, two cases of MPS IIIB disease were able to be described. They both had mild-to-moderate degrees of mental retardation, facial dysmorphism and dysostosis multiplex which do not differ from other types of MPS. Total amounts of GAGs in the urine were only mildly elevated but, among them, heparan sulfate was the highest. Skin fibroblasts alpha-N-acetyl-glucosaminidase activities were low in both cases. Therefore, analysis of GAGs and enzyme assays are important for the diagnosis of patients suspected to have MPS, especially type III disease.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Diagnosis of mucopolysaccharidosis type IIIB. 894 24

Pallister-Killian syndrome was first described in 1977 by Pallister, et al. It is a multiple congenital anomalies/mental retardation syndrome caused by mosaic tetrasomy of chromosome 12p. The chromosomal abnormality is often missed if only peripheral lymphocytes are examined, and bone marrow or cultured skin fibroblasts may be required for confirmation. Here we report the first case in Hong Kong.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Pallister-Killian syndrome: the first reported case in Hong Kong. 982 81

Williams-Beuren syndrome (WBS) is a rare neurodevelopmental disorder, characterized by distinct facial changes, growth deficiency, mental retardation, supravalvular aortic stenosis (SVAS)/peripheral pulmonary stenosis, and associated at times with infantile hypercalcemia. A pilot study has been carried out to assess the reliability of the detection of hemizygosity at the elastin locus by fluorescence in situ hybridization (FISH) analysis as a diagnostic test in both classical and atypical WBS. Eight subjects with classical WBS and four others in whom a diagnosis could not be confirmed on clinical criteria alone were enrolled. In the classical WBS group, five (5/8) had a visible interstitial 7q11.22-11.23 deletion detected by high-resolution banding, and all (8/8) had a submicroscopic deletion of the elastin locus on chromosome 7 by FISH analysis. In the atypical WBS group, only one (1/4) had elastin deletion. The other three, with isolated SVAS, had normal development and minimal signs of WBS. Furthermore, the patients with microscopic 7q11.22-11.23 deletion have more associated features of WBS than those without visible interstitial deletions by high-resolution banding. These results, therefore, emphasize the importance of a combined high-resolution and molecular cytogenetic (i.e., FISH) approach to diagnosis and suggest that the degree to which microscopic/submicroscopic deletions of chromosome 7 extending in beyond the elastin locus may explain some of the phenotypical variability found in WBS.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:FISH analysis in both classical and atypical cases of Williams-Beuren syndrome. 992 15


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