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)

A small-for-dates male infant with mental retardation, microcephaly, malformed ears, preauricular sinuses, epicanthal folds, micrognathia, congenital heart diseases, micropenis, and micropolygyria of the parietal and occipital lobes of the cerebral cortex was shown to have a 47,XY,+22 karyotype by trypsin-giemsa banding. Review of reported cases confirms that there may be distinctive trisomy 22 syndrome.
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PMID:Confirmation of trisomy 22 by trypsin-giemsa staining. 13 43

Two unrelated girls, aged 6 and 8 years, respectively, are presented with complete trisomy 22 in the absence of detectable mosaicism. In each case, the extra chromosome has been unambiguously identified as chromosome No. 22. The features which were consistent in both girls included: advanced maternal and paternal ages, a history of repeated abortions and stillbirths, normal birthweight with no gross post-natal growth retardation, mental retardation with further severe deterioration at 3-5 years of age, epilepsy (particularly motor seizures), hypotonia, neurological (especially cerebellar) deficit, and abnormal E.E.G. patterns. The physical stigmata comprised: frontal bossing, hypertelorism, bulbous nose, antimongoloid slant of the palpebral fissures, strabismus, long philtrum, large rotated protruding low-set auricles, pectus excavatum, and abnormal dermatoglyphics. The clinical course of the disorder was suggestive of a degenerative phenomenon of the central nervous system neurones.
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PMID:Complete trisomy 22. 56 44

Trisomy 22 was confirmed in a 20-year-old ambulatory female. Growth and mental retardation plus various dysmorphic features of this syndrome are described and compared with a previous survey. Several interesting unreported findings such as sexual immaturity and gait are discussed in regard to the 22 trisomy syndrome.
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PMID:Trisomy 22 in a 20-year-old female. 70 Jul 9

A patient identified as being a partial trisomy 22 mosaic is presented. The presence of a translocation t(4;22) (pter;q12) is noted in the mother, sister and maternal aunt. Comparison is made with nine other reported cases of partial trisomy 22 confirmed by parental translocation. These suggest a definite syndrome, including mental retardation, congenital heart disease, skeletal anomalies, anti-mongoloid slant of the palpebral fissures, preauricular skin tags and low-set ears.
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PMID:Partial trisomy 22: a recognizable syndrome. 89 Oct 9

The existence of a trisomy 22 has been definitely established by newer methods of karyotype analysis which permit distinction between the acrocentric chromosomes of group G. Trisomy 22 is much rarer than trisomy 21. This report presents presumptive evidence that the cat eye syndrome (CES), the so-called "trisomy 22" (T22), the intermediate cases (IM) with cardinal symptoms of CES and T22, and some cases of mental retardation with rather unspecific symptoms are variants of the same disease entity. For T22, CES and one abortive case the extra chromosome was clearly identified as number 22 chromosome with or without partial deletion of the long arm. An interesting and presently not fully understood feature of trisomy 22 is its frequent familial incidence.
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PMID:Trisomy 22. 116 80

A child with unilateral radial aplasia, asymmetry, other malformations, and severe physical and mental retardation is reported. In blood and bone marrow cultures a low mosaicism for trisomy 22 was found. In a few cells a chromosome 22 was missing. The importance of early cytogenetic analysis on large numbers of cells is emphasised, especially in cases of asymmetry where mosaicism is suspected.
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PMID:Unilateral radial aplasia and trisomy 22 mosaicism. 733 10

We have examined a boy with a peculiar facial appearance and mental retardation. Cytogenetic studies showed 47,XY, monosomy 22, two marker chromosomes, M1 and M2. The karotype is interpreted as functionally partial trisomy 22. Chromosome analyses of both parents and three sibs were normal.
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PMID:Complex chromosomal rearrangement leading to partial trisomy 22. 736 66

In a case of mosaic trisomy 22 the trisomic cells were detected primarily in fibroblasts. Results of initial lymphocyte chromosome analysis were normal. However, mosaicism was suspected because the patient had hypomelanosis of Ito, hemiatrophy, failure to thrive, and mental retardation. Mosaicism was confirmed in cultured fibroblasts. Repeat cytogenetic analysis of peripheral blood demonstrated a low level of trisomic metaphase cells, which was confirmed by interphase fluorescent in situ hybridization (FISH) analysis. Molecular studies supported maternal disomy in the child's disomic cells. The phenotype of this condition overlaps that of non-mosaic trisomy 22 chromosome mosaicism in general and to some extent the Ullrich-Turner syndrome phenotype. Improved cytogenetic and molecular techniques now allow better delineation of aneuploidy syndromes. Molecular and FISH studies added information about this case (mosaicism and uniparental disomy) not appreciated by routine cytogenetic analysis of lymphocytes. The detection of low-level mosaicism and/or uniparental disomy in such cases may change the clinical classification and our understanding of pathogenesis and recurrence risk of these disorders.
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PMID:Mosaic trisomy 22: a case presentation and literature review of trisomy 22 phenotypes. 955 7

Trisomy 22 is the most frequent trisomy, after trisomy 16, of the trisomies present in miscarriages. The children born with trisomy 22 have usually unbalanced translocations 11; 22 or mosaicisms. In a recent review Bacino et al. [1] were able to find 17 cases of children born with trisomy 22 including only 3 cases confirmed by molecular cytogenetics. We report a patient with an extra chromosome 22q- without mosaicism. This chromosomal anomaly was defined with FISH studies. The phenotype include microcephaly, microtia with pre auricular tags, hypertelorism, epicanthus, palatal cleft, short neck, winging scapulae, hypoplasia of the distal phalanges, pulmonary stenosis and mental retardation.
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PMID:De novo trisomy 22 due to an extra 22Q-chromosome. 952 16

Mosaic trisomy 22 is rare, but can be compatible with prolonged life. Patients with mosaic trisomy 22 usually present with intrauterine growth retardation, mental retardation, failure to thrive, and craniofacial asymmetry. We report the case of a five-year-old boy who had a birth weight of 3.8 kg and normal developmental milestones. He presented with unilateral ocular manifestations of ptosis, double elevator palsy, high myopia, and choroidal coloboma involving the macula. Cytogenetic evaluation showed a low level of trisomy 22 in peripheral blood lymphocytes (1 in 100) and in cultured fibroblasts from a conjunctival biopsy of the affected eye (1 in 60). Our case demonstrates the value of chromosomal analysis of the tissues involved rather than just karyotyping of the blood lymphocytes to detect mosaicism in patients with localised and unilateral congenital malformations.
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PMID:Ocular manifestations of mosaic trisomy 22: a case report and review of the literature. 1525 16


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