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)

To date, a total of eight cases of the Turner-mongolism polysyndrome have been recognized. The clinical manifestations included retarded growth (resulting in a small and infantile appearance), with shield-like chest, poorly developed breasts, absent body hair, brachycephaly, short neck with foldings and low hairline, oblique eyes with epicanthal folds, squat nose, scrotal or normal tongue, abnormal hard palate (high or cleft), short hands and feet, frequent cubitis valgus, normal clitoris (may be either hypoplastic or peniform), mental retardation, and the XO/G+ karyotype, mosaic for XO in most instances. At this time, a single cause for all cases of the double aneuploidy is not known.
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PMID:Turner-mongolism polysyndrome. Review of the first eight known cases. 12 53

Description of a boy aged 20 months presenting growth and mental retardation as well as several minor anomalies : brachycephaly, antimongoloid slant of the palpebral fissures, dystopia canthorum, broad nose, low set ears and short fingers. Chromosome analysis revealed an abnormal No. 15 with duplication of the distal half segment of its long arm (q22 leads to qter) and deficiency of the distal band of its short arm (p13). This anomaly was inherited by recombination aneusomy of a pericentric inversion carried by his mother : inv(15) (p12;q22).
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PMID:Inherited parital duplication deficiency of chromosome 15 (p12;q22). 73 60

A 3-year-old Latin female is reported with a terminal deletion of the No. 1 chromosome, karyotype formula 46, XX, del(1) (q43). Principle clinical features include: Anatomic - microcephaly; bilateral, convergent strabismus; epicanthus; brachycephaly; bulbar nose; sparse hair; partial soft tissue syndactylism between 2nd and 3rd fingers which are slightly tapered; whorls on all 10 fingers; mild prognathism; solitary kidney; vaginal stenosis; vesicoureteral reflux; asymmetric feet; and subluxation of peroneal tendons around the fibula with severe pronation and heal valgus deformity. Neurologic - moderate motor and mental retardation; high-pitched, shrill cry; absent pincer grasp at 3 years; and grand mal seizures documented from 9 months of age.
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PMID:Terminal (1)(q43) long-arm deletion of chromosome no. 1 in a three-year-old female. 95 13

Three children, two girls and one boy, are described as suffering from a new syndrome, 'cerebro-facio-thoracic dysplasia'. The characteristic findings are mental retardation, characteristic facies, narrow forehead, bushy eyebrows with synophrys, hypertelorism, broad nose, wide philtrum, triangular-shaped mouth, short neck, marked maxillary hypoplasia, a low hairline (especially posteriorly in the midline on the neck), brachycephaly, calcified clinoid ligements, and multiple bony abnormalities in the upper thoracic vertebrae and sometimes in the cervical region, together with a variety of deformities of the upper ribs. It seems possible that the condition is hereditary and that it may be inherited as a result of an autosomal recessive trait.
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PMID:Cerebro-facio-thoracic dysplasia: report of three cases. 120 88

A new type of non-specific X linked mental retardation is described in a three generation family. The three affected males had severe mental retardation (IQ 20 to 30), mutism, growth failure, frequent infections, seizures, and the following minor anomalies: brachycephaly, frontal hair whorl, square face, large mouth, thick lips, and prognathism. There was not a characteristic facies. Normal laboratory studies on the proband included a karyotype with fragile X screening, skeletal survey, blood amino acid, urine organic acid, and HGPRT levels. Linkage analysis was performed with 10 X chromosome DNA probes of which probe DXS255 at chromosomal region Xp11.22 gave a maximal two point lod score of 2.10 if phase was inferred and 1.20 if it was not. Crossovers were shown with probes mapping to regions Xp22, Xp21, and Xq28. Comparison of these patients with 80 X linked causes of mental retardation, including 41 which might be classified as 'non-specific', showed no other disorders compatible with the phenotypic and linkage data.
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PMID:Non-specific X linked mental retardation with aphasia exhibiting genetic linkage to chromosomal region Xp11. 847 12

Interstitial deletion of the short arm of chromosome 17 was detected in three patients. They all had a similar phenotype with mental retardation, behavioural problems, facial dysmorphism, brachycephaly, a broad face with a flat midface, and short and broad hands. All three cases were ascertained over a six month period by two neuropaediatricians aware of this specific anomaly, which suggests that this microdeletion is not particularly rare. Comparison of the clinical and cytogenetic findings in a total of 24 patients allows a new contiguous gene syndrome to be defined that only high resolution analysis can detect. In two cases, molecular analysis confirmed the cytogenetic results. The Charcot-Marie-Tooth type Ia gene has recently been localised to the 17p11.2 sub-band.
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PMID:Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases. 195 64

Children with hyperactivity and self-destructive behaviour present a difficult problem for parents and paediatricians. The syndrome described by Smith and Magenis is due to a deletion on the short arm of chromosome 17: del(17)(p11.2 p11.2). Clinical manifestations include brachycephaly and a flat mid-face; brachydactyly; short, broad hands; mental retardation; and aberrant behaviour, including hyperactivity. We report on five children, and review the literature on a newly recognised syndrome in which the behaviour manifestations may precede and often overshadow the learning disabilities and unusual appearance. In addition, we have found sleep disturbance to be a major feature in our patients.
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PMID:Five cases demonstrating the distinctive behavioural features of chromosome deletion 17(p11.2 p11.2) (Smith-Magenis syndrome). 233 13

A family in which a gene (MRX2) is segregating for an X-linked syndrome of mental retardation, short stature, microcephaly, brachycephaly, spastic diplegia, small testes and possible intra-uterine growth retardation is described. There are 7 clearly affected males and one possibly affected infant in the family. The obligate carriers are normal. Linkage studies show a suggestion of linkage to loci near the centromere. The maximum lod score was 2.10 at theta = 0.11 for DXYS1, assuming the possibly affected male carried the MRX2 gene. There were lower lod scores suggestive of linkage with DXS7 (theta = 0.14; z = 1.29) and DXS94 (theta = 0.11; z = 1.22).
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PMID:Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2) 882 53

A child with mental retardation and multiple congenital abnormalities, including brachycephaly, an unusual facies, brachydactyly, clinodactyly and bilateral talipes valgus, was found to have a small interstitial deletion of the short arm of chromosome 17. The clinical features and cytogenetic observations are compared with those in previously reported cases.
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PMID:Interstitial deletion of 17p11.2: case report and review. 328 68

Recently, a new clinically recognizable syndrome resulting from a small interstitial deletion of 17p [del(17)(p11.2p11.2)] was described in ten unrelated patients. We have identified six additional patients with similar cytogenetic and phenotypic abnormalities. Consistent clinical manifestations include 1) brachycephaly with a broad face and nasal bridge, 2) flat midface, 3) short, broad hands, and 4) mental retardation associated with hyperactivity and often self-destructive behavior. The craniofacial and hand anomalies are reminiscent of several craniosynostosis syndromes. Most patients also had growth deficiency and several other (more variable) congenital malformations. Chromosome studies with special attention to 17 should be performed in any patient with a similar phenotype.
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PMID:Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome. 372 61


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