X-chromosomal erblicher Schwachsinn und brüchige Stelle am X-Chromosom

Autor:	Angela Schmidt, E. Passarge
Rok vydání:	2008
Předmět:	medicine.medical_specialty business.industry Gene carrier Chromosomal fragile site Heterozygote advantage General Medicine Long arm Endocrinology Chromosome analysis Folic acid Speech development Internal medicine Medicine business X chromosome
Zdroj:	DMW - Deutsche Medizinische Wochenschrift. 106:460-463
ISSN:	1439-4413 0012-0472
DOI:	10.1055/s-2008-1070337
Popis:	One of the commonest forms of mental retardation can now be especially diagnosed by differentiated chromosome analysis: X-linked heritable mental retardation with a fragile site on the X-chromosome. The fragile site on the distal long arm of the X-chromosome in region 2, band 7 (Xq27) is not apparent under normal circumstances of culture but must be provoked by folic acid deficiency in the culture medium. The marker X-chromosome is demonstratable in 4-56% of the metaphases in affected males, whereas the recognition of heterozygote gene carriers is still uncertain. In the hemizygotes the defect is characterised clinically by a usually moderately severe intellectual retardation. The character of the carriers is friendly, and well balanced. Speech development is greatly retarded. Testicular volume beyond puberty is increased. Heterozygote females are usually clinically unremarkable. At times a slight mental retardation has been described.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::fe91041ef7a3bb11e35d19d97aad4c61 https://doi.org/10.1055/s-2008-1070337 Zobrazit plný text záznamu