Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A girl in whom a ring chromosome 13 was found, presented with microcephaly, mental retardation and multiple minor malformations. She was born after a full term pregnancy, small for date and with a small head circumference. She underwent craniotomy at the age of 18 months because of premature closure of the metopic sutures. At age 4 1/2 years, she presented with mental retardation, microcephaly, asymmetrical mongoloid slanting of narrow palpebral fissures, bilateral epicanthic folds, broad and prominent nasal bridge, normal sized ears and open mouth. She had somewhat short second and fifth fingers, with a single crease on the right fifth finger and normal thumbs. This case supports previous reports that a clinically recognizable ring chromosome 13 syndrome can be defined.
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PMID:Ring chromosome 13 syndrome. 113 90

Three Down syndrome patients for whom karyotypic analysis showed a "mirror" (reverse tandem) duplication of chromosome 21 were studied by phenotypic, cytogenetic, and molecular methods. On high-resolution R-banding analysis performed in two cases, the size of the fusion 21q22.3 band was apparently less than twice the size of the normal 21q22.3, suggesting a partial deletion of distal 21q. The evaluation of eight chromosome 21 single-copy sequences of the 21q22 region--namely, SOD1, D21S15, D21S42, CRYA1, PFKL, CD18, COL6A1, and S100B--by a slot blot method showed in all three cases a partial deletion of 21q22.3 and partial monosomy. The translocation breakpoints were different in each patient, and in two cases the rearranged chromosome was found to be asymmetrical. The molecular definition of the monosomy 21 in each patient was, respectively, COL6A1-S100B, CD18-S100B, and PFKL-S100B. DNA polymorphism analysis indicated in all cases a homozygosity of the duplicated material. The duplicated region was maternal in two patients and paternal in one patient. These data suggest that the reverse tandem chromosomes did not result from a telomeric fusion between chromosomes 21 but from a translocation between sister chromatids. The phenotypes of these patients did not differ significantly from that of individuals with full trisomy 21, except in one case with large ears with an unfolded helix. The fact that monosomy of distal 21q22.3 in these patients resulted in a phenotype very similar to Down syndrome suggests that the duplication of the genes located in this part of chromosome 21 is not necessary for the pathogenesis of the Down syndrome features observed in these patients, including most of the facial and hand features, muscular hypotonia, cardiopathy of the Fallot tetralogy type, and part of the mental retardation.
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PMID:No significant effect of monosomy for distal 21q22.3 on the Down syndrome phenotype in "mirror" duplications of chromosome 21. 146 8

We report a family with an 18p trisomic mother and two 18p tetrasomic daughters. The mother is phenotypically normal and healthy, but with an unusual type of trisomy 18p: 47,XX,del(18)(pter----p11.21),+i(18p) de novo. The older sister has microcephaly, mental retardation, an asymmetrical and peculiar face with low set ears, pinched up nose, high arched palate, small mouth, micrognathia, tapering fingers, asymmetrical length of legs, and an asthenic body. The younger sister was stillborn with extensive defects of the skull, congenital hydrocephalus, severe facial anomalies, and lumbosacral meningocele. Both daughters have inherited one normal chromosome 18 and an isochromosome 18p from their mother, and one normal chromosome 18 from their father. Although one quite similar family has been reported, to the best of our knowledge there have been no reports of families in which two daughters with tetrasomy 18p syndrome have been born to a mother with trisomy 18p with isochromosomes.
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PMID:Sibs with tetrasomy 18p born to a mother with trisomy 18p. 265 71

A 7-year-old non-Ashkenazi Jewish girl is described having asymmetrical ectrodactyly (split hand and foot deformity), short stature, mental retardation, sensorineural deafness, and abnormal facies. Because this constellation of findings has not been reported previously, the authors believe that this represents a new congenital malformation syndrome, most probably of genetic etiology.
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PMID:Newly recognized ectrodactyly/deafness syndrome. 279 2

EEG examinations were carried out on 137 patients with thalidomide embryopathy aged between 7 and 22 with a mean age of 17.0. Waking and sleep EEGs were normal in 82 (59.9%), and abnormal in 55 (40.1%). The incidence of abnormal EEG was significantly high in the patients associated with mental retardation, and it increased in proportion to the severity of mental retardation. The most frequent abnormal EEG finding was slowing of the basic activity (35/137; 24.8%). The incidence of slowing was significantly higher in the patients with a sensorineural hearing impairment (26/74; 35.1%) than in those with dysmelia (9/62; 14.5%). Slowing appeared frequently in the patients with various cranial nerve symptoms (30/84; 35.7%). The incidence of slowing was found significantly high in the patients with borderline or subnormal intelligence (8/16; 50.0%), and it correlated with the severity of mental retardation. Many patients (48/84; 57.1%) showed unilateral or asymmetrical neurological symptoms. However, asymmetry or focal abnormality in EEG was shown in only 8 patients. Positive spikes appeared frequently in the patients with gonadal dysplasia. Other somatic symptoms, past medical history and family history were not related to the incidence of abnormal EEGs. Eight patients had had epileptic seizures prior to this examination. Another 2 patients had nocturnal enuresis and showed epileptic EEG abnormalities in this examination. The incidence of epilepsy was significantly higher in the patients we examined than among the general population. It is concluded that ingestion of thalidomide during pregnancy affected not only the morphological development of the limbs of the fetus, but the functions of its central nervous system, causing hearing impairment, other cranial nerve symptoms, mental retardation or epilepsy.
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PMID:Electroencephalographic study of 137 patients with thalidomide embryopathy. 343 8

Type E brachydactyly is a digital malformation which characteristically causes an asymmetrical shortening of one or more metacarpals or metatarsals or both. Although commonly seen as part of a syndrome, it can be inherited as an autosomal dominant characteristic, the gene acting with variable expressivity, but complete penetrance. As an Albright hereditary osteodystrophy (AHO)-like syndrome including brachydactyly type E and mental retardation may be caused by (micro) deletions at chromosome 2q37, this region together with the AHO locus at chromosome 20q13 were considered as candidate loci for brachydactyly type E. In this paper we described a family with isolated autosomal dominant type E brachydactyly in whom molecular analysis excludes linkage to these regions, providing support for further genetic heterogeneity of this trait.
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PMID:Isolated autosomal dominant type E brachydactyly: exclusion of linkage to candidate regions 2q37 and 20q13. 893 44

The nature and quality of preadolescent friendships between children with and without learning problems due to mental retardation or mild cognitive difficulties were investigated. Based on an assessment of the reciprocal relationship status of 373 children, including 54 with learning problems, 33 friend and 32 acquaintance dyads were identified. Of these dyads, half included a child with learning problems and half consisted of 2 children without learning problems. The dyads were observed performing a play task. Unlike friendships between children without disabilities, friendships between children with and without learning problems were marked by limited collaboration and shared decision-making, a low level of cooperative play and shared laughter, and an asymmetrical, hierarchical division of roles. The importance of advancing beyond the study of the social acceptance of children with learning problems to study the qualitative aspects of their friendships was discussed.
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PMID:The quality of friendships between children with and without learning problems. 932 87

The term phylloid hypomelanosis is proposed to denote a new etiologically defined neurocutaneous syndrome. The hallmark of this trait is a pattern of hypopigmentation consisting of round or oval lesions, large asymmetrical areas reminiscent of the leaves of a begonia, as well as pear-shaped areas or oblong macules. The term phylloid pattern is derived from Greek phyllon=leaf and eidos=form. In 5 out of 6 cases in which cytogenetic findings were reported, a mosaic trisomy 13 or translocation trisomy 13 was found. All patients showed CNS defects with mental retardation. In addition, absence of corpus callosum, conductive hearing loss, choroidal and retinal coloboma,cranio-facial defects as well as brachydactyly,clinodactyly, camptodactyly and other skeletal anomalies were reported. In contrast to hypomelanosis of Ito which is associated with many different forms of genetic mosaicism, phylloid hypomelanosis most likely represents a cytogenetically rather uniform neurocutaneous phenotype.
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PMID:[Phylloid hypomelanosis and mosaic trisomy 13: a new etiologically defined neurocutaneous syndrome]. 1122 Feb 35

We report on a 15-year-old boy with epilepsy and mental retardation who had been repeatedly shunted since birth for hydrocephalus. This child showed at imaging an unusual, severe and complex brain malformation consisting of distorted gyral patterns with deeply infolded mantle in the parietal-lateral and posterior-temporal lobes, normal versus dysplastic cortex, unseparated thalami, thin white matter, collapsed ventricles, partial frontal corpus callosum agenesis, closely apposed superior and middle cerebral peduncles with narrow fourth ventricle, continuity of posterior cerebellum hemispheric foliar patterns across the midline, closely apposed cerebellar peduncles, asymmetrical hypogenesis of the vermis and herniation of the cerebellar hemispheric pattern up through the tentorial incisure. In addition, this boy had congenital skeletal and skin anomalies including pre-axial hexadactyly with thumb duplication, wide bone occipital lacunae (catlin mark) with partial occipital suture synostosis, cutis vertex rigirata and a tuft of hair in the outer region of the right eyebrow. Several of these cerebral and cerebellar abnormalities were suggestive of rhombencephalosynapsis. Nonetheless, many of these brain abnormalities are also recorded in Chiari type 2 malformation after operative shunting. To the best of our knowledge, however, this complex constellation of nervous system, skeletal and skin abnormalities has not been previously reported.
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PMID:A complex brain malformation syndrome with rhombencephalosynapsis, preaxial hexadactyly plus facial and skull anomalies. 1613 55

A 24-year-old man presented with closed-lip schizencephaly around the right central sulcus manifesting as an 11-year history of intractable epilepsy. Mild motor paresis in the left extremities and mental retardation were observed. Tonic posture with bilateral facial tonic contraction was asymmetrical, predominantly in the left extremities. Magnetic resonance imaging demonstrated closed-lip schizencephaly around the right central sulcus. The epileptogenic zone was determined in the supplementary motor area, and premotor and primary sensorimotor cortices using invasive recordings. As the thickened cortex was considered functional, corticectomy of the supplementary motor area and premotor area was performed, preserving the primary sensorimotor area. Histological examination revealed marked cortico-subcortical gliosis, particularly in the medial part of the resection. Asymmetrical tonic postural seizure disappeared completely after surgery. Medically intractable epilepsy with schizencephaly represents a considerable challenge in epilepsy surgery. Partial corticectomy adjacent to the thickened cortex was effective for seizure control in a patient with closed-lip schizencephaly around the central sulcus.
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PMID:Closed-lip schizencephaly around the central sulcus with intractable epilepsy treated by peri-lesional focus resection. 1803 9


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