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Literature DB >> 489008

X-linked mental retardation with macro-orchidism and marker X chromosomes.

Abstract

A family with X-linked mental retardation and a marker X chromosome was ascertained by the presence of macro-orchidism in the three institutionalized probands. Verbal evaluation revealed a generalized language disability with commonly occurring articulation errors. The heterozygous females in this family exhibited some reduction in mental ability; the marker X chromosome was demonstrated in both sexes.

Entities: Disease

Mesh：

Year: 1979 PMID： 489008 DOI： 10.1007/bf00399389

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

11 in total

1. X-linked mental retardation associated with macro-orchidism.

Authors: G Turner; C Eastman; J Casey; A McLeay; P Procopis; B Turner
Journal: J Med Genet Date: 1975-12 Impact factor: 6.318

2. Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium.

Authors: G R Sutherland
Journal: Science Date: 1977-07-15 Impact factor: 47.728

3. A marker X chromosome.

Authors: H A Lubs
Journal: Am J Hum Genet Date: 1969-05 Impact factor: 11.025

4. Constitutional chromosomal breakage.

Authors: F Giraud; S Ayme; J F Mattei; M G Mattei
Journal: Hum Genet Date: 1976-10-28 Impact factor: 4.132

5. X-linked recessively inherited non-specific mental retardation. Report of a large family.

Authors: J Deroover; J P Fryns; C Parloir; H Van den Berghe
Journal: Ann Genet Date: 1977-12

6. Marker X chromosomes and mental retardation.

Authors: G R Sutherland
Journal: N Engl J Med Date: 1977-06-16 Impact factor: 91.245

7. Inherited congenital normofunctional testicular hyperplasia and mental deficiency. A corroborative study.

Authors: J M Cantú; H E Scaglia; M González-Diddi; P Hernández-Jáuregui; T Morato; M E Moreno; J Giner; A Alcántar; D Herrera; G Pérez-Palacios
Journal: Hum Genet Date: 1978-04-24 Impact factor: 4.132

8. X-linked nonspecific mental retardation. Report of a large kindred.

Authors: K M Yarbrough; P N Howard-Peebles
Journal: Clin Genet Date: 1976-02 Impact factor: 4.438

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

Authors: P N Howard-Peebles; G R Stoddard; M G Mims
Journal: Am J Hum Genet Date: 1979-03 Impact factor: 11.025

10. Familial X-linked mental retardation with an X chromosome abnormality.

Authors: J Harvey; C Judge; S Wiener
Journal: J Med Genet Date: 1977-02 Impact factor: 6.318

25 in total

1. Study of a family with a fragile site of the X chromosome at Xq27-28 without mental retardation.

Authors: M A Voelckel; N Philip; C Piquet; M C Pellissier; I Oberlé; F Birg; M G Mattei; J F Mattei
Journal: Hum Genet Date: 1989-03 Impact factor: 4.132

2. X-linked mental retardation: in pursuit of a gene map.

Authors: C E Schwartz
Journal: Am J Hum Genet Date: 1993-06 Impact factor: 11.025

3. Normal activity and electrophoretic mobility of erythrocyte glucose-6-phosphate dehydrogenase in males with X-linked mental retardation and the fragile Xq.

Authors: A J Carroll; P N Howard-Peebles
Journal: Am J Hum Genet Date: 1981-09 Impact factor: 11.025

X-linked mental retardation with macro-orchidism and marker X chromosomes.

1. X-linked mental retardation associated with macro-orchidism.

2. Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium.

3. A marker X chromosome.

4. Constitutional chromosomal breakage.

5. X-linked recessively inherited non-specific mental retardation. Report of a large family.

6. Marker X chromosomes and mental retardation.

7. Inherited congenital normofunctional testicular hyperplasia and mental deficiency. A corroborative study.

8. X-linked nonspecific mental retardation. Report of a large kindred.

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

10. Familial X-linked mental retardation with an X chromosome abnormality.

1. Study of a family with a fragile site of the X chromosome at Xq27-28 without mental retardation.

2. X-linked mental retardation: in pursuit of a gene map.

3. Normal activity and electrophoretic mobility of erythrocyte glucose-6-phosphate dehydrogenase in males with X-linked mental retardation and the fragile Xq.

4. Selection and use of a method for the culture of blood leucocytes to reveal the fra(x) site.

5. 5-Fluoro-2'-deoxyuridine induction of the fragile site on Xq28 associated with X linked mental retardation.

Review 6. The fragile X syndrome: the patients and their chromosomes.

7. Fragile (X)(q27) sites in a pedigree with female carriers showing mild to severe mental retardation.

8. Terminal deletion with stable acentric fragment of 1q in a child with congenital malformations.

9. Further segregation analysis of the fragile X syndrome with special reference to transmitting males.

10. The role of DNA damage response pathways in chromosome fragility in Fragile X syndrome.