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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Having previously demonstrated that patients with cri du chat, 5p- syndrome, have a highly significant excess of the plasmatic and urinary relative amount of asparagine and aspartate, the authors tested the hypothesis according to which this excess could be in relation with a defect of purine metabolism. Using a previously reported in vitro assay, they found a paradoxal increase in the mitotic index in the presence of L-alanosine in lymphocyte cultures of patients with 5p- who were on no medication. They also observed particularly severe toxicity to HAT medium. This response, apparently characteristic for 5p- syndrome, was highly significant when compared to the one observed in samples of normal controls, of patients with mental retardation of various etiologies, patients with Down syndrome or with Xqfra syndrome. When patients with cri du chat syndrome received inosine with folinic acid, an inversion of their response to alanosine was observed as well as the normalization of their response to HAT medium. These findings suggest that deletion of 5p14-5p15 leads to some impairment of de novo purine synthesis, the implications of these findings are discussed.
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PMID:Metabolic anomalies in cri du chat syndrome (5p-) lymphocytes and de novo purine synthesis. 180 30

Cri-du-chat syndrome is a severe disease resulting from a deletion of the short arm of chromosome number 5. The basic medical disorder includes dysmorphic facies, mental retardation, and a striking catlike cry in infancy. Because of significant oral anomalies and difficulty in behavior management, the syndrome is of particular interest to the dental practitioner. A case with many of the typical medical findings and significant dental considerations is reported. An aggressive preventive dentistry program is essential. A thorough understanding of the medical and developmental problems of the patient with cri-du-chat syndrome ensures safe and effective dental care.
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PMID:Cri-du-chat syndrome: dental considerations and report of case. 213 47

The cat cry (cri du chat) syndrome is a rare congenital anomaly due to partial deletion of the short arm of the No. 5 chromosome. Since the first report of Lejeune et al, in 1963, nearly 400 cases have been reported. However, the syndrome with a ring chromosome is still very rare and only 10 cases were reported up to 1988, since the first report of Rohde and Tompkins in 1965. To investigate the chromosomal changes in the patients of cat cry syndrome, a chromosomal study was carried out on 10 cases of cat cry syndrome from 5,870 cases submitted to the Laboratory of Cytogenetics, National Taiwan University Hospital from Nov. 1968 through Apr. 1988. These ten cases included 3 males and 7 females (M:F = 1:2.3) aged 2 days to 18 months with an average of 5.5 months. The most common clinical features are: cat-like cry, growth failure, microcephaly with mental retardation, round face with facial abnormalities including hypertelorism, downward slanting palpebral fissures, micrognathia and low-set ears, and simian crease. Laryngomalacia or underdevelopment of the larynx may be a factor causing the cat-like cry. On chromosome analysis, 8 out of these 10 cases showed the usual simple deletion of the short arm of the no. 5 chromosome, and the other 2 cases revealed ring chromosome including a case of pure ring chromosome([(4, XY, r (5)] and a case of mosaicism with one ring chromosome, 2 ring chromosomes and simple deletion of the short arm of the No. 5 chromosome.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[The cat cry (cri du chat) syndrome: report of a case with review of 10 cases at the National Taiwan University Hospital]. 267 33

Cri du chat syndrome is an inherited disease affecting multiple organ systems. Most characteristic is the anatomical abnormality of the larynx resulting in a cat-like cry. Issues important in developing an anaesthetic plan include: anatomical abnormalities of the airway, congenital heart disease, hypotonia, mental retardation, and temperature maintenance. We report the case of a 33-month-old patient with cri du chat syndrome undergoing patent ductus arteriosus (PDA) ligation and discuss the anaesthetic issues.
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PMID:Anaesthetic considerations for the patient with cri du chat syndrome. 748 25

Cri-du-chat is a chromosomal deletion syndrome characterized by partial deletion of the short arm of chromosome 5. The clinical symptoms include growth and mental retardation, microcephaly, hypertelorism, epicanthal folds, hypotonia, and a high-pitched monochromatic cry that is usually considered diagnostic for the syndrome. Recently, a correlation between clinical features and the extent of the chromosome 5 deletions has identified two regions of the short arm that appear to be critical for the abnormal development manifested in this syndrome. Loss of a small region in 5p15.2 correlates with all of the clinical features of cri-du-chat with the exception of the cat-like cry, which maps to 5p15.3. Here we report the construction of a YAC contig that spans the chromosomal region in 5p15.2 that plays a major role in the etiology of the cri-du-chat syndrome. YACs that span the 2-Mb cri-du-chat critical region have been identified and characterized. This YAC contig lays the groundwork for the construction of a transcriptional map of this region and the eventual identification of genes involved in the clinical features associated with the cri-du-chat syndrome. It also provides a new diagnostic tool for cri-du-chat in the shape of a YAC clone that may span the entire critical region.
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PMID:A yeast artificial chromosome contig of the critical region for cri-du-chat syndrome. 789 90

In this pair of studies, we examined whether the common perception of a positive Down syndrome personality is associated with a youthful craniofacial appearance, similar to Zebrowitz's (1997) "babyface." In Study 1, 43 observers rated photographs of age-matched children with Down syndrome, another mental retardation syndrome (5p- syndrome), and typically developing children. Those with Down syndrome were perceived as being more physically babyfaced and more likely to behave in an immature manner. We controlled for the effect of familiarity with Down syndrome in Study 2 by employing a within-etiology design in which 128 observers rated 12 pictures of 10-year-old children with Down syndrome. Results showed that more physically babyfaced children with Down syndrome are more subject to the overgeneralization.
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PMID:Craniofacial maturity and perceived personality in children with Down syndrome. 1054 12

Delta-catenin is an adherens junction protein involved in cell motility and expressed early in neuronal development. It was discovered as an interactor with presenilin-1. The genomic structure of the human delta-catenin gene (Human Gene Nomenclature Committee-approved symbol CTNND2) was determined and mapped to 5p15.2. A deletion of this chromosomal region has been associated with the cri-du-chat syndrome (CDCS), a segmental aneusomy syndrome of 5p that is associated with an unusual high-pitched cry at birth, facial dysmorphology, poor growth, and severe mental retardation. delta-catenin maps to a specific region in 5p15.2 that has been implicated in the mental retardation phenotype. The breakpoints in patients with 5p terminal deletions were characterized with respect to the severity of mental retardation and the physical location of the delta-catenin gene. A strong correlation was found between the hemizygous loss of delta-catenin and severe mental retardation. These findings and the properties of delta-catenin as a neuronal-specific protein, expressed early in development and involved in cell motility, support its role in the mental retardation of CDCS when present in only one copy.
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PMID:Hemizygosity of delta-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome. 1067 28

Cryptic rearrangements involving the terminal regions of chromosomes are suspected to be the cause of idiopathic mental retardation in a significant number of cases. This finding highlights the necessity of a primary screening test for such chromosome aberrations. Here we present a multiplex fluorescence in situ hybridization telomere integrity assay which allows the detection of submicroscopic aberrations in the telomeric regions of all chromosomes. This novel approach identified an unbalanced cryptic translocation der(5)t(3;5)(q27;p15.3) in a family with three cases of unexplained mental retardation and dysmorphic features. The symptoms of the patients represent neither the classical dup(3q)- nor cri du chat syndrome, although all affected individuals demonstrate several features of both syndromes. The identification of two balanced translocation carriers emphasizes the significance of the telomere integrity assay for genetic counseling and prenatal diagnosis.
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PMID:Multiplex FISH telomere integrity assay identifies an unbalanced cryptic translocation der(5)t(3;5)(q27;p15.3) in a family with three mentally retarded individuals. 1098 35

The majority of deletions of the short arm of chromosome 5 are associated with cri du chat syndrome (CdCS) and patients show phenotypic and cytogenetic variability. To perform a genotype-phenotype correlation, 80 patients from the Italian CdCS Register were analysed. Molecular cytogenetic analysis showed that 62 patients (77.50%) had a 5p terminal deletion characterised by breakpoint intervals ranging from p13 (D5S763) to p15.2 (D5S18). Seven patients (8.75%) had a 5p interstitial deletion, four (5%) a de novo translocation, and three (3.75%) a familial translocation. Of the remaining four patients, three (3.75%) had de novo 5p anomalies involving two rearranged cell lines and one (1.25%) had a 5p deletion originating from a paternal inversion. The origin of the deleted chromosome 5 was paternal in 55 out of 61 patients (90.2%). Genotype-phenotype correlation in 62 patients with terminal deletions highlighted a progressive severity of clinical manifestation and psychomotor retardation related to the size of the deletion. The analysis of seven patients with interstitial deletions and one with a small terminal deletion confirmed the existence of two critical regions, one for dysmorphism and mental retardation in p15.2 and the other for the cat cry in p15.3. Results from one patient permitted the cat cry region to be distally narrowed from D5S13 to D5S731. Furthermore, this study lends support to the hypothesis of a separate region in p15.3 for the speech delay.
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PMID:Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation. 1123 81

To clarify the genotype-phenotype correlation of 5p- syndrome, FISH analyses were performed for six patients by using a series of probes spanning 5p13.1-p15.33. Genotypically, break points of deletion were quite different. Three of the six patients were diagnosed as interstitial deletion on chromosome 5p by G-banding method and FISH analysis; however, all of them proved to be entire distal deletions of 5p caused by unbalanced chromosomal translocations. Furthermore, one 5p- syndrome patient was diagnosed only by the FISH analysis using a single probe but not by ordinary chromosomal analyses. Therefore, when ordinary chromosomal analysis cannot detect any deletion in a patient who is phenotypically suspected of 5p- syndrome, multiple FISH analysis or parental chromosomal analysis would be needed for correct diagnosis. Interestingly, one patient with terminal deletion between 5p15.31-pter lacks mental retardation and cat-like crying, indicating that this region might not be responsible for those cardinal features of 5p- syndrome. Further studies on genotype-phenotype correlation will help us better understand 5p- syndrome and also determine functional mapping of the 5p region.
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PMID:Genotype-phenotype correlation of 5p-syndrome: pitfall of diagnosis. 1560 31


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