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Literature DB >> 6876116

Demonstration of the fra(X) in lymphocytes, fibroblasts, and bone marrow in a patient with a testicular tumour.

Abstract

A man aged 34, whose mental retardation and appearance were consistent with the fra(X)(q28) syndrome, had a craggy lump in his left testis. The fragile X was found in lymphocytes, fibroblasts, and bone marrow. The testicular tumour was benign and inflammatory in nature and within the testis spermatogenesis was absent.

Entities: Disease Species

Mesh：

Year: 1983 PMID： 6876116 PMCID： PMC1049054 DOI： 10.1136/jmg.20.3.225

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

7 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. High resolution of human chromosomes.

Authors: J J Yunis
Journal: Science Date: 1976-03-26 Impact factor: 47.728

3. Inherited congenital normofunctional testicular hyperplasia and mental deficiency.

Authors: J M Cantú; H E Scaglia; M Medina; M González-Diddi; T Morato; M E Moreno; G Pérez-Palacios
Journal: Hum Genet Date: 1976-07-07 Impact factor: 4.132

4. Heritable fragile sites on human chromosomes II. Distribution, phenotypic effects, and cytogenetics.

Authors: G R Sutherland
Journal: Am J Hum Genet Date: 1979-03 Impact factor: 11.025

5. More on marker X chromosomes, mental retardation and macro-orchidism.

Authors: P A Jacobs; M Mayer; E Rudak; J Gerrard; E J Ives; M H Shokeir; J Hall; M Jennings; H Hoehn
Journal: N Engl J Med Date: 1979-03-29 Impact factor: 91.245

6. Marker X chromosomes, mental retardation and macro-orchidism.

Authors: G Turner; R Till; A Daniel
Journal: N Engl J Med Date: 1978-12-28 Impact factor: 91.245

7. Testicular biopsy in evaluation of male infertility.

Authors: E Meinhard; C U McRae; G D Chisholm
Journal: Br Med J Date: 1973-09-15

7 in total

5 in total

Demonstration of the fra(X) in lymphocytes, fibroblasts, and bone marrow in a patient with a testicular tumour.

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

2. High resolution of human chromosomes.

3. Inherited congenital normofunctional testicular hyperplasia and mental deficiency.

4. Heritable fragile sites on human chromosomes II. Distribution, phenotypic effects, and cytogenetics.

5. More on marker X chromosomes, mental retardation and macro-orchidism.

6. Marker X chromosomes, mental retardation and macro-orchidism.

7. Testicular biopsy in evaluation of male infertility.

1. Differential bleomycin susceptibility in cultured lymphocytes of fragile X patients and normal individuals.

2. Expression of fra(10)(q25) in peripheral blood and bone marrow in familial neutropenia.

3. Molecular cytogenetic studies of pediatric ependymomas.

4. Spermatogenesis in two patients with the fragile X syndrome. I. Histology: light and electron microscopy.

5. Aging in Fragile X Premutation Carriers.