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

An X isochromosome for the long arm was studied in 3 patients with Turner's syndrome using the BrdUrd-Hoechst 33258-Giemsa method and C-staining. In all 3 patients studied, the long arms of the i(Xq) were asymmetrical with respect to chronology of DNA synthesis. The most striking asynchrony of DNA replication was observed in large early replicating segments adjacent to the centromeric region. Two C bands of similar appearance were observed localized symmetrically in both arms. The data are interpreted in accordance with two possible origins of an abnormal X which is known as i(Xq).
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PMID:Isochromosome X in man: different DNA replication patterns in the long arms. 93 57

A case of malformation of five permanent teeth in the right maxilla is described. The asymmetrical malformations were probably caused by an early local trauma of the right maxilla. This trauma led to defective mineralization of the deciduous tooth germs, which was verified roentgenologically. The resulting early osteitic process caused injury to the permanent germs at a sensitive mineralization period. Mineralization disturbances of 13, 14, 15, 16 and 17 were established roentgenologically. In the other halves of the jaws the development was entirely normal. Endocrinological examination showed normal values and there were no signs of hypothyreosis or Turner's syndrome. Acute symptoms in the right maxilla at the age of 9 necessitated extraction of germs 14 and 16. As subsequent roentgenograms showed that 13 and 15 were not developing normally in respect of mineralization, these were extracted at, respectively, 12 and 13 years of age. For the same reason 17 was extracted two years later. The histopathological examination showed in all involved teeth a pronounced malformation with disturbances both of the morpho- and histodifferentiation of the various dental tissues.
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PMID:Unilateral odontodysplasia. 625 90

The entity includes the Turner syndrome, the pure gonadal dysgenesis (Swyer syndrome), the asymmetrical gonadal differentiation, and gonadal dysgenesis of some forms of trisomy. The necessity of prophylactic gonadectomy in all patients with Y chromosome is stressed because of a close association with the arising of tumors in the dysgenetic gonads. The requirements are described of a successful substitution with steroids.
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PMID:[Morphology of the genitals in gonadal dysgenesis]. 666 42

Mosaicism 45X/47XXX is a sporadic form of ovarian dysgenesis. Many of the cases previously described were characterized by a variable phenotype expression. We here report the case of a 33-yr-old woman with recent secondary amenorrhea, weight loss and breast regression. Her menarche had occurred at the age of 11 yr and 6 months and her menstrual cycles had been regular until the age of 28; then, oligomenorrhea and hypertricosis developed. A pelvic ultrasound showed enlarged polycystic-like ovaries and normal uterus. She was treated with ethynil-estradiol and cyproterone acetate for one year. At the age of 31 yr, she underwent a pelvic ultrasound--which revealed normal volume of the ovaries--and hormonal assays including FSH (69 UI/l), LH (113 UI/l), 17beta-estradiol (88 pg/ml), plasma androgens and cortisol levels within normal ranges. No organ-specific autoantibodies toward ovaries, steroid-producing cells or adrenals were found. At the age of 33 yr, there was ultrasound evidence of streak-like ovaries. The patient's height was 145 cm and her weight 45 kg. She had normal female external genitalia, abnormal upper-to-lower body segment ratio, webbed neck, low posterior hair line, cubitus valgus, short and asymmetrical 4th metacarpi, hallux with lateral deviation and moderate scoliosis. No increase in ovarian steroids were found after GnRH-analogue triptorelin (0,1 mg sc) administration. The karyotype analysis on peripheral blood lymphocytes showed a mosaic 45X (90% cells) and 47XXX (10% cells). Diagnostic pelviscopy confirmed streak gonads. Chronic lymphocytic thyroiditis was diagnosed but no cardiovascular or kidney abnormalities were found. A neuro-psychological evaluation revealed emotional and social immaturity, disorders in motorial coordination, visual-spatial organization, as well as reading difficulties and impaired complex phrase construction. The presence of several somatic features of Turner's syndrome, neuro-psychological disorders and an interesting natural history probably depended on the quantitative proportion of 45X to 47XXX cell-lines in different tissues and organs. Estrogen and progestin replacement therapy led to weight gain, re-appearance of secondary sexual characteristics and a mild improvement in mental equilibrium.
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PMID:Turner's syndrome mosaicism 45X/47XXX: an interesting natural history. 1176 52

Each chromosomal defect has its own syndromal pattern of detectable abnormalities. The authors describe the sonographic features of trisomy 21 and other major chromosomal defects in the first trimesters of pregnancy. At 11(+0) - 13(+6) weeks, all major chromosomal defects are associated with increased NT thickness. In trisomies 21, 18 and 13 the pattern of increase in NT is similar and the average NT in these defects is about 2.5 mm above the normal median for crown-rump length. In Turner syndrome, the median NT is about 8 mm above the normal median. In addition to increased NT there are sonographic features that are often seen in some affected fetuses at 11(+0) - 13(+6) weeks. In trisomy 21 fetuses have absent nasal bone, short maxilla and abnormal Doppler waveforms in the ductus venosus. In trisomy 18, there is early onset fetal growth restriction, a tendency for bradycardia, exomphalos, absent nasal bone and single umbilical artery. In trisomy 13, there is tachycardia, early onset fetal growth restriction, megacystis, holoprosencephaly and exomphalos. In Turner syndrome, there is tachycardia and early onset fetal growth restriction. In triploidy, there is early onset asymmetrical fetal growth restriction, bradycardia, holoprosencephaly, exomphalos, posterior fossa cyst and molar changes in the placenta.
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PMID:[Sonographic features of chromosomal defects at 11(+0) to 13(+6) weeks of gestation]. 1614 58

Mixed gonadal dysgenesis (MGD) is a condition of abnormal and asymmetrical gonadal development. This disorder is typically associated with 45,X/46,XY mosaicism; however, other karyotypes have been rarely reported. The phenotype characterizing MGD is highly variable, although in most cases ambiguous genitalia are found. In addition, many individuals with MGD exhibit stigmata of Turner's syndrome. We describe a patient with MGD, found to have a 45,X/47,XYY karyotype, with the majority of the cell lines being 47,XYY. To our knowledge, our report is the first to describe the long-term follow-up of a patient with ambiguous genitalia diagnosed at birth with 45,X/47,XYY mosaicism.
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PMID:Long term follow-up of a child with ambiguous genitalia, mixed gonadal dysgenesis, and unusual mosaicism. 1996 Aug 97

Identifying potentially unique features of the human cerebral cortex is a first step to understanding how evolution has shaped the brain in our species. By analyzing MR images obtained from 177 humans and 73 chimpanzees, we observed a human-specific asymmetry in the superior temporal sulcus at the heart of the communication regions and which we have named the "superior temporal asymmetrical pit" (STAP). This 45-mm-long segment ventral to Heschl's gyrus is deeper in the right hemisphere than in the left in 95% of typical human subjects, from infanthood till adulthood, and is present, irrespective of handedness, language lateralization, and sex although it is greater in males than in females. The STAP also is seen in several groups of atypical subjects including persons with situs inversus, autistic spectrum disorder, Turner syndrome, and corpus callosum agenesis. It is explained in part by the larger number of sulcal interruptions in the left than in the right hemisphere. Its early presence in the infants of this study as well as in fetuses and premature infants suggests a strong genetic influence. Because this asymmetry is barely visible in chimpanzees, we recommend the STAP region during midgestation as an important phenotype to investigate asymmetrical variations of gene expression among the primate lineage. This genetic target may provide important insights regarding the evolution of the crucial cognitive abilities sustained by this sulcus in our species, namely communication and social cognition.
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PMID:New human-specific brain landmark: the depth asymmetry of superior temporal sulcus. 2558