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)

Two brothers (Nos. 1 and 3), with physical and mental retardation and many other clinical characteristics in common, were both trisomic for 12p(ter leads to 12.1) and monosomic for 21p. Their mother (No. 5), the maternal grandmother (No. 7), aunt (No. 8), and a first-cousin (No. 9) were balanced translocation carriers, 46 rep (12;21) (p12.1;p11). Another cousin (No. 10) had Down syndrome: he had two normal 21 chromosomes in addition to both translocation chromosomes. A sister (No. 2), who died at the age of 1 year without being karyotyped, had several phenotypical features in common with her brothers. Our two cases of trisomy 12p (ter leads to 12.1) were compared with eight cases of trisomy 12p described earlier, and the following common characteristics were found: severe mental and physical retardation; flat and round, broad face with prominent cheeks; flat and broad nasal bridge with short nose; anteverted nostrils and large philtrum; broad and prominent lower lip; low-set or slanting ears, poorly formed with folded helix, prominent antihelix and deep concha; short neck; short sternum; "spade"-shaped fingers, the fifth being short; bilateral genu valgum; bilateral pes planus and talus valgus; increased space between the first and second toes; generalized hypotonia; and certain dermatoglyphic characteristics. An elevated serum lactate dehydrogenase (LDH) was measured in four cases.
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PMID:Trisomy 12p syndrome. Evaluation of a family with a t(12;21) (p12.1;p11) translocation with unbalanced offspring. 14 83

A male patient with mental retardation and typical clinical features of 10p trisomy syndrome was found to have a duplication of the short arm of chromosome 10 attached to the short arm of the Y chromosome. Quantitative evaluation of nine red cell enzymes showed significantly increased activity levels of HK1 and, to a lesser extent, of PK, PGI, 6PGD, and G6PD. It is suggested that the HK1 locus may be in the 10pter leads to p12 region. The increased levels of HK1 could affect other erythrocyte metabolic pathways slowing down the physiological rate of cellular senescence and result in increased activity levels of other cell-age-dependent enzymes.
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PMID:Increased HK1 activity levels in the red cells of a patient with a de novo trisomy 10p: t(Y;10)(p11;p12). 46 60

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 cytogenetic survey was carried out on 200 patients with mental retardation and multiple congenital anomalies, and on 200 normal adult controls. Patients with a known syndrome were excluded from the survey. Chromosome analyses were carried out on 'blind-coded' slides using the ASG banding technique as the routine stain. After the initial analyses (at least 15 cells per person) the slides were decoded, destained and reused for C and Q band polymorphism studies. Five major chromosome abnormalities were detected in the patient group during the survey. They included three patients with de novo, apparently balanced, reciprocal translocations, karyotypes 46,XY,rcp(3;16)(q21;p12); 46,XX,rcp(5;8)(p15;q22); and 46,XX,rcp(5;12)(p11;q24); one with karyotype 47,XX,+mar and one with karyotype 46,XX,der(13),t(13;?)(q34;?). One additional patient whose karyotype in lymphocytes was 46,XX,inv(9)(p11;q13) was found to have a mosaic karyotype 46,XX,inv(9)(p11;q13)/46,XX,inv(9) (p11;q13), der(12),t(12;?)p13;?) in cultured skin fibroblasts. None of the 200 controls had a major chromosome abnormality. From the combined results of this and previous surveys it is now apparent that about 6.2% of the unclassifiable mentally retarded patients with three or more congenital anomalies and about 0.7% of the controls reveal major chromosome abnormalities.
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PMID:A cytogenetic survey of 200 unclassifiable mentally retarded children with congenital anomalies and 200 normal controls. 88 53

A description is given of a female infant with multiple malformations and mental retardation who died at 31 months. Cytogenetic studies indicate trisomy of the complete short arm of chromosome 5, resulting from the unbalanced segregation of a balanced translocation in the mother whose karyotype was interpreted as 46,XX,t(5; 15)(p11; p12). The karyotype of the proband was designated 46,XX, der(5)t(5; 15)(p11; p12)mat. Family studies indicate that the translocation has been present in the family for at least 6 generations.
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PMID:'Complete 5p' trisomy: 1 case and 19 translocation carriers in 6 generations. 92 39

Two boys (W.M. and C.P.) are described, in each of whom a short-arm deleted C chromosome was apparently present. The clinical findings on W.M. are stenosis of the sagittal sutura associated with atrophy of the nervus opticus and mental retardation, and on C.P. osteogenesis imperfecta. An analysis of the G- and Q-banding patterns revealed in each patient a 12p-- chromosome. The deletion involved most of band p12 as shown by length measurements on G-banded chromosomes. Both cases were compared to proven and presumed cases of 12p-- from literature, but no common clinical phenotype could be demonstrated.
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PMID:Short arm deletion of chromosome 12: report of two new cases. 117 24

The association of nephropathy, Wilms' tumour and genital abnormalities is known as Drash syndrome. Two of these features are also seen in the WAGR (Wilms' tumour, aniridia, genito-urinary abnormalities, mental retardation) complex, known to be associated with deletions of chromosome region 11p13. We have carried out karyotypic and molecular studies in 10 Drash patients, 5 males and 5 females. All the males had a 46XY karyotype as did 3/5 of the phenotypic females, the other two having a 46XX karyotype. One of the 46XX females also had a deletion of region 11p13-p12, the only detectable autosomal chromosome abnormality in any of the patients studied. Lymphoblastoid cell lines were prepared from 6 of the Drash patients and were used in dosage studies using a variety of DNA probes from the 11p13 region. There was no evidence of microdeletions in any patient with a normal karyotype. Because of the 46XY karyotype in phenotypic females, selected X and Y chromosome loci were analysed and all found to be normal. Although Drash syndrome is likely to be of genetic origin, there are no readily detected deletions within the 11p13 region.
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PMID:Molecular analysis of chromosome region 11p13 in patients with Drash syndrome. 184 70

At least 16 cases of inversion tandem duplications of the short arm of chromosome 8 have been reported. Structural rearrangements of chromosome 8 have made it possible to localise the gene for glutathione reductase (GSR) to 8p21.1. We report here on a 16 month old boy with mental retardation with partial trisomy 8 owing to a de novo inv dup(8)(p12----p23.1).
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PMID:Inverted tandem duplication of 8p12----p23.1 in a child with increased activity of glutathione reductase. 231 83

An adult female with sever mental retardation and dysmorphic features is described. A de novo chromosomal aberration involving 8p was found. The karyotype was 46, XX, inv dup (8) (p12----p23.1). Dosage studies with the DNA probe D8S7, which is located at 8p23----8pter, showed that the patient was monosomic for this marker. Thus the de novo rearrangement generated a duplication-deficiency chromosome. The possible mechanisms of formation of this abnormal chromosome are discussed.
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PMID:Inverted tandem duplication generates a duplication deficiency of chromosome 8p. 288 52

We present a dup (10p) due to a t(10;14) (p11;p12)mat with a malformation syndrome in a girl. The analysis of 37 published cases shows that 31 patients (16 males; 15 females) had either a mother or a father carrying a balanced translocation; one case was due to a paternal and another due to a maternal pericentric inversion; two cases were due to de novo translocations; one case had a partial duplication of 10p; and one case had a supernumerary ring chromosome composed of 10p material. The phenotypic spectrum of the condition was analyzed. It is a specific multiple congenital anomalies/mental retardation (MCA/MR) syndrome which includes characteristic facial appearance (dolichocephaly, frontal bossing, short nose with a broad root, highly arched and upswept eyebrows, long philtrum, and thin lips), postnatal growth retardation, severe mental and psychomotor retardation, and several major and minor anomalies. Pseudohermaphroditism seems to be an important anomaly being present in 15 to 20% of affected males. A hypothenar crease together with a transverse crease forming a "crease triangle" seems a helpful sign in the clinical diagnosis of duplication 10p.
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PMID:Duplication 10p in a girl due to a maternal translocation t(10;14) (p11:p12). 682 5


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