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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Trisomy 1q is a rare condition frequently reported in association with other chromosomal abnormalities. An adult female patient had partial trisomy of the long arm of chromosome 1 (1q32.3-->qter) and partial monosomy of the short arm of chromosome 8 (8p23-->pter) of de novo origin. Clinical features in adulthood included mental retardation, short stature, long narrow face, brachycephaly, synophrys, small downward slanting palpebral fissures and long nose. Standard cytogenetic techniques in combination with fluorescence in situ hybridisation (FISH) studies were performed to determine the origin of the extra chromosomal material.
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PMID:Partial trisomy 1q (1q32-->1qter) in adulthood: further delineation of the phenotype. 970 37

Total trisomy 9 is a rare disorder with most patients dying before age 4 months. Herein, we report a 9-year-old girl with mental retardation, short stature, a peculiar face and other minor defects, who was diagnosed as having an unbalanced de novo X-autosome translocation with a 46,X,der(9)t(X;9)(q12;q32) karyotype resulting in almost a full trisomy 9(pter-->q32) and a partial monosomy X(q12-->pter). The clinical findings of our patient, almost exclusively resemble those of trisomy 9p and the Ullrich-Turner syndromes and has few manifestations of 9q trisomy. BrdU replication studies by Giemsa staining showed an earlier replication of 9p in the translocated chromosome, but a marked late-replication pattern for almost the complete 9q arm involved in the translocation. FISH studies confirmed the presence of three 9 centromeres, excluded the presence of the X centromere signal in the rearranged chromosome, and showed that both Xq telomeric sequences were present. BrdU replication studies by FISH showed an usual pattern of striking late-replication around the XIC of the derivative chromosome, but early replication of the chromosome 9p segment and distal Xq.
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PMID:Combined trisomy 9 and Ullrich-Turner syndrome in a girl with a 46,X,der(9)t(X;9)(q12;q32) karyotype. 984 37

Chromosome imbalance affecting the short arm of chromosome 4 results in a variety of distinct clinical conditions. Most of them share a number of manifestations, such as mental retardation, microcephaly, pre- and post-natal growth retardation, anteverted and low-set ears, that can be considered as nonspecific signs, generally attributable to gene dosage impairment. On the other hand, more distinctive phenotypic traits correlate with the segmental aneuploidy. Duplications of the distal half of 4p give rise to the partial trisomy 4 syndrome, characterized by a "boxer" nose configuration and deep-set eyes. These signs are usually observed even in cases of small terminal duplications. Haploinsufficiency of 4p16.3 results in the so-called Wolf-Hirschhorn (WH) syndrome, a contiguous gene syndrome characterized by maxillary hypoplasia, large and protruding eyes, high nasal bridge, skeletal abnormalities, and midline defects. The smallest overlapping deletion described so far as a cause of this condition is only 165 kb long, suggesting that one or a few genes in this region act as "master" regulators of different developmental pathways. A "tandem" duplication of 4p16.1p16.3 was detected in association with a subtle deletion of 4p16.3pter on the same chromosome in a patient with the WH phenotype. The 3.2 Mb deletion, spanning the genomic region from the vicinity of D4S43 to the telomere, encompasses the recently delimited "WHS critical region" [Wright et al., 1997: Hum. Mol. Genet. 6:317-324]. This unusual chromosome rearrangement resulted in WH phenotype, clinical manifestations of partial 4p trisomy being mild or absent. This observation led us to speculate that the regulatory gene/genes in the critical WH region affect the expression of other genes in a dose-dependent manner. Haploinsufficiency of this region could be more deleterious than various partial trisomies.
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PMID:"Tandem" duplication of 4p16.1p16.3 chromosome region associated with 4p16.3pter molecular deletion resulting in Wolf-Hirschhorn syndrome phenotype. 1006 6

In three patients, two males aged four months and 39 years, and a female aged 19 years, trisomy 9p (the threefold presence of the short arm of chromosome 9) was diagnosed. The main symptoms are mental retardation, brachycephaly, hypertelorism with deep-set eyes, broad base of the nose, short philtrum, carp-shaped mouth, cup-shaped ears, short fingers and clinodactyly. Trisomy 9p is often caused by a balanced translocation in one of the parents. Therefore, cytogenetic studies of the parents and if appropriate other relatives are necessary. If one of the parents carries a translocation, the recurrence risk may vary from 2% to 15%. This depends on the length and origin of the chromosomal translocation segments. In case a translocation is found, genetic counselling of family members is warranted; it should include information concerning clinical symptoms, recurrence risks, prenatal diagnosis and other family planning alternatives.
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PMID:[Trisomy 9p: a clinical picture and the importance of examining the family]. 1032 2

We report on two brothers with low birth weight, growth retardation, microcephaly, minor facial anomalies, mental retardation, and trisomy (6)(p23-->pter) due to a maternal t(6;17)(p23;p13.3). As demonstrated by fluorescent in situ hybridisation (FISH) with the Miller-Dieker cosmid probe (D17S379) and with a subtelomeric probe (D17S34) the additional deletion on 17p13 is very small, and therefore, the phenotype of these two boys is most likely the result of essentially pure partial trisomy 6p. Comparison of the clinical findings with those of ten cases from the literature of dup(6p) with a breakpoint in or more distal to 6p23 allows delineation of a specific phenotype of dup(6)(p23-->pter) characterized by low birth weight, growth retardation, microcephaly, and blepharophimosis, blepharoptosis, microstomia, and abnormal ears.
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PMID:"Essentially pure" partial trisomy (6)(p23-->pter) in two brothers due to maternal t(6;17)(p23;p13.3). 1039 66

Trisomy 5p and Miller-Dieker syndromes frequently are the result of unbalanced segregations of reciprocal translocations of chromosomes 5 and 17 with other autosomes. The critical regions for the expression of the mentioned syndromes have been mapped to 5p13-->pter, and 17p13.3-->pter. In this report, we describe an 8-year-old girl with mental retardation, postnatal growth deficiency, generalized muscular hypotonia, seizures, microcephaly, cortical atrophy, partial agenesis of corpus callosum, cerebral ventriculomegaly, facial anomalies, patent ductus arteriosus, pectus excavatum, long fingers, and bilateral talipes equinovarus caused by the presence of a 46,XX,der(17)t(5;17)(p13.1;p13.3)mat chromosome complement. Cytogenetic studies of the family confirmed a balanced reciprocal translocation (5;17)(p13.1;p13.3) in her mother, maternal grandfather, maternal aunt, and a female first cousin. Fluorescence in situ hybridization studies on the mother and the proposita using three probes, which map to distal 17p, confirmed the reciprocal translocation in the mother and a terminal deletion in the patient, which resulted in the retention of LIS1 and D17S379 loci and deletion of the 17p telomere. These findings and the phenotype of the proposita, strongly suggest that genes telomeric to LIS1 and locus D17S379 are involved in many clinical findings, including the minor facial anomalies of the Miller-Dieker syndrome.
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PMID:Miller-Dieker syndrome and trisomy 5p in a child carrying a derivative chromosome with a microdeletion in 17p13.3 telomeric to the LIS1 and the D17S379 loci. 1040 60

A child with monosomy for the distal part of the short arm of chromosome 3 (3p25-->pter) and trisomy for the terminal portion of the long arm of chromosome 17 (17q23-->qter) is presented. This unbalanced karyotype was derived from a balanced reciprocal 3p/17q translocation in the phenotypically normal mother. Main clinical features in the proband included growth and mental retardation, hypotonia, hirsutism, micro/brachycephaly, triangular face, synophris, broad and full nose, long philtrum, narrow upper lip, low set, posteriorly turned ears, anteriorly placed anus and congenital heart defect (Tetralogy of Fallot). Most of these clinical manifestations have been constantly reported in previous cases with terminal 3p deletion.
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PMID:A 3p deletion syndrome in a child with both del(3)(p25-->pter) and dup(17)(q23-->qter). 1043 22

Characterization of a partial trisomy 16 q with FISH: Report of a patient and literature review: We report on a 28-year-old male patient with severe growth and mental retardation, severe behavioural problems, especially automutilation, and a spastic quadriplegia. He showed no specific dysmorphism. The karyotype was 46, XY, dir dup(16) (q11.2-q13). The clinical and cytogenetical findings are compared with 3 previously reported cases with proximal duplication 16q.
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PMID:Characterization of a partial trisomy 16q with FISH. Report of a patient and review of the literature. 1043 24

A 14-year-old male was referred for evaluation of mental retardation with short stature and dysmorphic features. His karyotype was 46,XY,der(14)t(5;14)(q33;p12)pat, resulting in a pure partial 5q33-q35 trisomy due to the adjacent-1 segregation of a paternal balanced translocation. Paternal blood karyotype revealed a balanced translocation t(5;14)(q33;p12) retaining Ag-Nors. To date, only two cases of pure partial 5q trisomies spanning this region have been reported. Analysis of these cases and the one we report does not allow the delineation of a specific phenotype.
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PMID:Pure partial trisomy 5q33-->5q35 resulting from the adjacent-1 segregation of a paternal (5;14)(q33;p12) translocation. 1052 60

Somatic chromosomal mosaicism may present as isolated pigmentary abnormalities or multiple congenital anomalies with mental retardation. Pigmentary lesions are visually dramatic and are differentiated based on appearance when the underlying pathogenesis is not known. It is now clear that mosaicism is responsible for the pigmentary findings in hypomelanosis of Ito (HI) and linear and whorled nevoid hypermelanosis (LWH). Both hypopigmentation and hyperpigmentation have been noted in the same individual, and both LWH and HI can be caused by similar chromosomal abnormalities. Both of these conditions exhibit similar systemic involvement. We present a case of LWH associated with mosaic trisomy 7 and review the relevant literature.
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PMID:Mosaic trisomy 7 in a patient with pigmentary abnormalities. 1059 73


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