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Results for “X-Linked Intellectual Disability”

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At least 361 records · Page 20Linked to original sources
PubMed1985

Familial X-linked ichthyosis, steroid sulfatase deficiency, mental retardation, and nullisomy for Xp223-pter.

Steroid sulfatase (STS)-deficient X-linked ichthyosis was diagnosed in a man with short stature and mental retardation. His generation includes five similarly affected male members. A translocation chromosome is segregating in this Newfoundland kindred. The proband's mother and grandmother have normal skin and are of normal intelligence. From his carrier mother, the proband inherited an X short arm (Xp) to Y long arm (Yq) translocation chromosome, with the entire Y short arm and the X short arm terminal segment deleted (Xp223-pter). His cells are completely deficient in STS activity, confirming assignment of the STS locus to Xp223-pter. Effective management of his ichthyosis included treatment with 6% salicylic acid gel under plastic occlusion and removal of the scales by scrubbing.

Adult↗
PubMed1979

Familial X-linked mental retardation, verbal disability, and marker X chromosomes.

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.

Chromosome Banding↗
PubMed1971

Norrie's disease.

Norrie's disease is an X-linked disease presenting bilateral blindness at birth or during the first few months of life. A white retrolental membrane is seen initially, later the eyes usually become phthisic. Dementia or psychosis appears in about 25% and sensory hearing loss present in 1/5 or 1/4 of the blind males. Carriers are clinically unaffected. The main differential diagnoses comprise retinoblastoma, retrolental fibroplasia, toxoplasmosis, falciform detachment, juvenile retinoschisis, sex-linked microphthalmia, sex-linked cataract and congenital retinal detachment.

Abnormalities, Multiple↗
PubMed1982

Expression of the marker (X) (q28) in lymphoblastoid cell lines.

The marker(X)(q28) chromosome associated with one type of X-linked mental retardation has been demonstrated in lymphoblastoid cell lines established from affected individuals. The mar(x) can reliably and repeatedly be seen by the addition of FUdR to the cultures for 24 hrs prior to harvest. This simple technique provides an excellent in vitro experimental test system for investigation of the mar(X).

Cell Line↗
PubMed1984

[Mental retardation linked to fragility of chromosome X: current knowledge].

The association of the fragile X chromosome with X-linked mental retardation is now well established. The main clinical features are mental retardation, typical facial dysmorphism and macroorchidism. Cytogenetically there is a fragile site in band Xq27-28 which can be demonstrated using specific techniques. The genetic studies are compatible with a X-linked dominant inheritance with an incomplete penetrance. A preliminary estimation of an overall frequency of 1: 2000 males for the fra(X)(q) condition is suggested.

Bromodeoxyuridine↗
PubMed1984

Fragile-X syndrome ascertained by the presence of macro-orchidism in a 5-month-old infant.

The fragile-X syndrome, an X-linked form of mental retardation, is estimated to affect one in every 1,000 to 2,000 live-born male infants. Most commonly, fragile-X syndrome has been detected only after patients clearly demonstrate developmental delay, and frequently detection occurs only if the family history is consistent with X-linked mental retardation. Macro-orchidism is a finding commonly associated with the fragile-X syndrome. It has been suggested that the sparsity of reports of macro-orchidism among prepubertal boys with the fragile-X syndrome might be due to lack of careful measurement of the tests rather than to initiation of the enlargement at puberty. A 5-month-old infant with fragile-X syndrome, ascertained through testicular enlargement noted by actual measurement of testicular size as part of his physical examination, is reported.

Adult↗
PubMed1983

[X chromosome-linked mental retardation with fragile X chromosome and macro-orchidism].

Description of the first Swiss family with the new syndrome of X-linked mental retardation. The three brothers described are the first of all males traced back for four generations to be affected. In two of the brothers macroorchidism and the fragile X-chromosome were demonstrated, while the third brother died before diagnosis. As expected, the fragile X was not demonstrable in the 75-year-old mother of the three brothers.

Adolescent↗
PubMed1982

[X-linked mental retardation, macro-orchism, and X chromosome fragile site. Presentation of 6 cases in 2 families].

Six males, four adults and two children, with very important mental deficiency and speech disturbances, belonging to two families are presented. The six patients show the clinical peculiarities of the "X-linked mental retardation, macroorchidism, and the Xq27 fragile site", but the chromosomal alteration only was presented in five cases. Patient who did not have the chromosomal defect presented the same IQ than his brothers, but he had a less severe macroorchidism, a better speech and more normal clinical features. One of the patients shows a shorter arm which linkage with the syndrome is discussed.

Adolescent↗
PubMed1982

Fragile X chromosome and X-linked mental retardation.

A family is described in which three normal females transmitted to seven males X-linked mental retardation associated with macro-orchidism and a fragile site on the long arm of the X chromosome -- fra(X)(q27). The affected males also had minor clinical features in common: a large forehead, long face, large ears, a long upper lip and large extremities.

Adolescent↗
PubMed1982

[Fragile X chromosome and X-linked mental retardation (author's transl)].

In males affected by a special form of X-linked mental retardation a characteristic chromosomal abnormality can be demonstrated, - i.e. a fragile site on the long arm of the X chromosome, fra(X) (q27 or 28) (marker-X chromosome). Male carriers are physically normal, but in most cases show macroorchidism. The demonstration of the marker-X chromosome requires special cell culture conditions, above all a folic acid-deficient medium. The frequency of cells with fragile X chromosome varies interindividually, ranging from 2 to 50%. In female heterozygous carriers the number of cells with fra(X) decreases with age and cannot be demonstrated in some cases. Distribution and frequency of X-linked mental retardation with marker-X chromosome and macro-orchidism are discussed, as well as possibilities of prenatal diagnosis of this disorder.

Adolescent↗
PubMed1982

Fragile X-linked mental retardation of macro-orchidism.

A fragile site near the end of the long arm (q) of the X chromosome appears to be directly related to the gene responsible for the mental retardation found among males and some females who possess this variant X chromosome. Macro-orchidism is present in most males studied. Other mild phenotypic similarities may exist. The expression of the fragile X (fra[X]) chromosome is dependent on the concentration of folic acid and thymidine in the culture medium, which partly explains why fra(X) was not noted earlier and connected promptly with X-linked mental retardation. Whereas prenatal diagnosis is now possible, genetic counseling is complicated by recent reports of "intellectually normal" fra(X) males. Further studies are needed to form solid conclusions about intellectual deficits, learning behavior or personality characteristics of fra(X) persons.

Female↗