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)

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

Unbalanced interstitial deletions of the p13 region of human chromosome 11 have been associated with congenital hypoplasia or aplasia of the iris, mental retardation, ambiguous genitalia, and predisposition to Wilms tumor of the kidney. Utilizing somatic cell hybrids containing either the normal or abnormal chromosome 11 from a child with Wilms tumor and aniridia, we previously mapped the E7 cell-surface antigen to the 11p1300-to-11p15.1 region. To localize even further the site of this antigen on chromosome arm 11p, we have produced somatic cell hybrids from the fibroblasts of a second child with Wilms tumor and aniridia and a different deletion of 11p [46,XY, del (11)(pter----p14.1::p11.2----qter)]. Furthermore, the normal and deleted chromosome 11 could also be distinguished on the basis of a restriction fragment length polymorphism for the beta-globin gene. Hybrid cells containing the deleted chromosome were not killed in the presence of complement and the E7 monoclonal antibody (which recognizes E7 cell surface antigen), while hybrid cells containing the patient's normal chromosome 11 were killed. Thus, expression of the E7-associated cell-surface antigen can be mapped to the 11p13 region, and it appears to be a potential marker of the chromosome abnormality associated with aniridia-Wilms tumor.
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PMID:The E7-associated cell-surface antigen: a marker for the 11p13 chromosomal deletion associated with aniridia-Wilms tumor. 299 35

Interstitial deletion of the short arm of chromosome 17 was detected in three unrelated patients with mental retardation and multiple congenital malformations. These patients were identified at a single centre over a six month period suggesting that del(17) (p11.2p11.2) is not a rare constitutional chromosome rearrangement. Comparison of the phenotypic features in a total of 19 patients with del(17)(p11.2p11.2) shows a consistent clinical phenotype with moderate to severe mental retardation, microbrachycelphaly, prominent forehead, broad face, flat midface, prognathism, short, broad hands, and behavioural anomalies such as self-mutilation. The sex ratio is unremarkable, parental ages are normal, and survival is usually unimpaired. Chromosome resolution of at least 500 bands appears necessary to detect this deletion.
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PMID:Chromosome subband 17p11.2 deletion: a minute deletion syndrome. 323 51

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

Gene dosage effects for catalase (CAT) were studied in two unrelated patients with an interstitial deletion involving 11p13 to determine precisely the sites of the genes for CAT and the Wilms tumor--aniridia, genitourinary abnormalities, and mental retardation triad (WAGR) in the 11p13 band. Case 1 had the aniridia-Wilms tumor association, and case 2 showed the AGR triad. The karyotypes identified by high resolution banding techniques were 46,XY,del(11)(pter----p13::p11.11----qter) for case 1 and 46,XY,t(2;17)(q23;q25),del(11)(pter----p13::p11.2----qter) for case 2. In both cases, the distal breakpoints of the deleted chromosomes 11 appeared to have occurred on the middle portion of 11p13 (11p1305----p1306). The level of erythrocyte CAT activities in case 1 was reduced (47% of normal), while that in case 2 was normal. The results suggested not only that both the CAT and WAGR should be mapped to chromosome region 11p1305----p1306, but also that in this region the CAT locus is more distally placed than the WAGR locus. Because of the proximity of the two gene loci, assays of erythrocyte CAT may be useful to identify a submicroscopic deletion in some patients with sporadic aniridia and to predict a risk of developing Wilms tumor.
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PMID:Regional mapping of catalase and Wilms tumor--aniridia, genitourinary abnormalities, and mental retardation triad loci to the chromosome segment 11p1305----p1306. 632 23

Three cases of distal duplication 14q are presented. The first two cases are cousins in a kindred segregating a balanced translocation t(14;18)(q31;q23). The third case resulted from a maternal translocation t(14;18)(q24;p11). By review of these cases and those previously reported, a distal duplication 14q syndrome is further delineated. Common features include postnatal growth retardation, mental retardation, hypotonia, microcephaly, slanted palpebral fissures, ocular hypertelorism, sparse eyelashes and eyebrows, nasal dysmorphism, tented lip, micrognathia, posteriorly rotated ears, and minor skeletal anomalies.
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PMID:Distal duplication 14q: report of three cases and further delineation of the syndrome. 650 May 67

A prepubertal boy with hypopituitarism, mental retardation, dysmorphia and solitary maxillary central incisor is described, karyotypic studies showed deletion of the short arm of chromosome 18 (46, XY, del (18) (p11). It is suggested that caryotypic studies is of interest among the patients with midline defects and/or hypopituitarism.
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PMID:[Solitary upper incisor, hypopituitarism and monosomy 18p chromosome aberration]. 665 63

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

A 23-year-old phenotypic female with congenital heart disease, mental retardation and mild virilization was referred for evaluation of short stature and delayed sexual development. Endocrine studies revealed a markedly elevated serum testosterone, which was within the adult range. At laparotomy, a small uterus, normal fallopian tubes and bilateral gonadal tumors, consisting of a left gonadoblastoma and right dysgerminoma were found. Trypsin G banding of peripheral blood revealed a 45,XO, 18p+ karyotype. Q banding demonstrated intense fluorescence of the distal portion of the extra material on chromosome 18, consistent with fluorescence of Y chromosomal heterochromatin. A combination of banding techniques enabled us to determine a 45,X,t(Y;18) (p11;p11) karyotype in peripheral blood. Cultures of gonadal tissue revealed 45,X,t(Y;18)/46,XY mosaicism.
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PMID:Cytogenetic and endocrine findings in a female with 45,X,t(y;18) (p11;p11). 719 97

A 3 1/2-year-old boy revealed moderate motor and mental retardation, normal growth, a congenital heart defect and multiple minor dysmorphic signs and anomalies including brachycephaly, orbital hypotelorism, upward slanting palpebral fissures, short and beaked nose, full cheeks, malformed auricles, hypoplastic external genitalia, rocker-bottom feet with prominent heels, and various minor radiologic anomalies of bones. An extra chromosome in his karyotype appeared to represent trisomy of the short arm of chromosome 20 due to a maternally inhherited balanced t(13;20)(p11;q11) translocation.
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PMID:Trisomy 20pter = to q11 in a malformed boy from a t(13;20)(p11;q11) translocation-carrier mother. 735 83


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