Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe a female infant with multiple congenital anomalies and mental retardation, pre- and postnatal growth failure, microcephaly, unusual facial appearance, and minor skeletal anomalies, all very suggestive of the partial trisomy 20(p) syndrome. Although she was born to karyotypically normal parents, she had an extra small metacentric chromosome. Analysis of metaphase and prometaphase chromosomes by GTG banding and Giemsa 11 staining showed that the extra chromosome was a number 20 with a deletion of the distal end of the long arm. Gene dose studies of adenosine deaminase (ADA) and inosine triphosphatase (ITP) supported the cytogenetic interpretation.
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PMID:Partial trisomy 20 confirmed by gene dosage studies. 23 7

Cytogenetic and verbal studies were done on members of four families with non-specific X-linked mental retardation. Cytogenetic analysis was done using media 199 and GTG-banding; one family had a marker X with a fragile site in band Xq27 or 28. Preliminary results indicate variation of culture conditions can effect the frequency of the marker X. A generalized language disability was found which tended to concentrate in the areas of auditory reception, auditory sequential memory, visual closure and grammatic closure. Articulation errors involved the same sounds which are late in normal development and occur most frequently in both the general population and a Down syndrome population.
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PMID:Familial X-linked mental retardation, verbal disability, and marker X chromosomes. 45 4

Five cases with different abnormalities of chromosome 18 are described: one case with trisomy 18, two cases with ring 18, one case with partial trisomy 18q and one case with a mosaic 18p-/iso 18q. The karyotypes of the parents were normal. Cytogenetic analysis was performed on PHA stimulated blood lymphocytes. GTG, QFQ, MTX banding techniques were used. Karyotype-phenotype correlations are made. All patients present mental retardation, hypotonia and facial dismorphisms. The different degree of mental retardation and the clinical signs are in relation to the different size of deletions or trisomies of the short or long arm of chromosome 18. In the case with mosaicism 18p-/iso18q the phenotype is determined from the chromosomal abnormality more frequent in the cells (18p-).
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PMID:[Correlations between karyotype and phenotype in structural and numerical abnormalities of chromosome 18]. 146 1

The origin of an extra marker chromosome in a patient with mental retardation and intractable epilepsy was ascertained by DNA analysis. Gene dose and restriction fragment length polymorphism (RFLP) studies of D15S9 proved that the patient was tetrasomic for the gene and that the extra chromosome was of maternal origin. On the basis of the molecular findings, further detailed GTG-banded chromosome analysis interpreted the marker chromosome as inv dup(15)(pter----q14::q14----pter). The clinical manifestations of the patient are consistent with those of the patients previously described.
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PMID:Identification of a marker chromosome as inv dup(15) by molecular analysis. 168 58

A 4-month-old Japanese girl with partial monosomy 21 was described. The patient has craniofacial anomalies, a short neck, wide-set nipples, anal atresia, deformed feet, hypertonia, intrauterine growth retardation, and mental deficiency. RFA- and high-resolution GTG-banding chromosome analyses, and Southern- and slot-blot analyses interpreted her karyotype as 45,XX,-2,-21, + der(2)t(2:21)(q37.3;q22.1). The origin of this de novo translocation ascertained by analyses with both QFQ-heteromorphisms and a Fr8-77/BamHI RFLP was paternal. Comparison of the patient with previously reported patients confirmed that her manifestations are consistent with those of monosomy for 21pter-q21. Based on the results of molecular analyses on the present patient, a DNA clone, Fr8-77 (D21S82), was assigned to pter-q21.
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PMID:Monosomy for 21pter-q21: case report and assignment of a DNA clone (Fr8-77) to the deleted segment. 209 79

A de novo interstitial deletion of part of the long arm of chromosome 10 [del(10)(q11.2q21)] was identified by GTG (G-bands by trypsin using Giemsa) banding in a 9-year-old girl with mental retardation and minor anomalies. Only one other case of a similar deletion has been reported [Ray et al, 1980] and the phenotypic findings of the two cases are compared.
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PMID:Brief clinical report: interstitial deletion of the long arm of chromosome 10: del(10)(q11.2q21). 257 54

Five male Japanese patients with complex glycerol kinase deficiency (CGKD) and their relatives were studied clinically, cytogenetically, and molecular-genetically. All patients had muscular dystrophy or muscle weakness, mental retardation, congenital adrenal hypoplasia, and glycerol kinase deficiency. High-resolution GTG-banded chromosomes showed a microdeletion in the Xp21 region in all four patients examined and in all five mothers. Southern hybridizations, after digestions by restriction endonucleases, with various cloned DNAs (D2, 99-6, B24, C7, L1-4, cDMD13-14, J66-HI, P20, J-Bir, ERT87-30, ERT87-15, ERT87-8, ERT87-1, XJ-1.1, 754, cx5.7, and OTC-1) that are located around Xp21 also showed a deletion in the genome of all patients and mothers. Although the deletion differed in size among patients, a segment commonly absent was located between the genomic sequences corresponding to L1-4 and cDMD13-14. This finding indicated that the gene coding for glycerol kinase (GK) is located within this segment. A comparison of the clinical manifestations of the present five patients and reported CGKD or Duchenne muscular dystrophy (DMD) patients with DNA deletion suggests the existence of a certain gene responsible for gonadotropin deficiency (GTD). The result of the present study and results of previous studies suggest that genes for ornithine transcarbamylase (OTC), DMD, and GK and putative genes responsible for congenital adrenal hypoplasia (AHC) and GTD are arranged from telomere to centromere as pter--GTD--AHC--GK--DMD--OTC--cen.
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PMID:Complex glycerol kinase deficiency: molecular-genetic, cytogenetic, and clinical studies of five Japanese patients. 285 74

A 9-year-old boy was referred for evaluation of multiple anomalies and mental retardation. Skeletal abnormalities had been noted at birth: joint contractures, right acetabular "dysplasia," ulno-fibular dysostosis, and bilateral talipes equinovarus with calcaneocuboid fusion. Additional findings at 9 years included short stature, unusual facial appearance, camptodactyly of several digits, undescended testes, and syndactyly of toes 4 and 5. On psychological testing he was found to be moderately retarded. Cytogenetic analysis of chromosome bands using Q, GTG, R, and C banding showed an interstitial deletion of 21q; karyotype designation: 46,XY, del (21)(pter----q11.2::q22.1----qter). Parental chromosomes were normal. Manifestations in this boy, including the joint contractures, are similar to those described in the monosomy 21 syndrome. Ulno-fibular dysostosis has not been reported previously with abnormalities of chromosome 21. To our knowledge, this is the second patient reported with an interstitial deletion of chromosome 21, and the patients are phenotypically dissimilar.
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PMID:De novo 21q interstitial deletion in a retarded boy with ulno-fibular dysostosis. 397 70

The second black male with X-linked mental retardation and a fragile site at Xq27 was ascertained by screening for macroorchidism. GTG banding revealed the presence of an inv(9)(p13q21). This inversion is thought to be a chance occurrence and is probably of no clinical significance. More cases having a marker Xq and a chromosome abnormality are expected; some of these abnormalities will be clinically significant.
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PMID:X-linked mental retardation with a fragile site in Xq and an inversion of chromosome no. 9. 720 53

An additional small G-like chromosome was found in a six-months old male with multiple congenital anomalies and marked mental retardation. GTG banding revealed that the index patient was trisomic 16 q1100 leads to pter. In the bibliographical review a few cases of partial trisomy of chromosome 16 have been reported so far, but only two of them affect the same chromosomic region of our case, and only one of them is "de novo", like ours: this one would be the first case in the spanish bibliography, according to our knowledge. The clinical findings in our patient are similar to the other two cases published: our purpose is to contribute with a new case to delimitate what seems to be a definite phenotypical outline associated with trisomy 16p. The two patients early reported were females, the propositus is the first case of trisomy 16p reported in a male liveborn with genital anomalies.
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PMID:["De novo" partial trisomy 16p (author's transl)]. 733 11


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