Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis

Autor:	B C, Hamel, A P, Smits, B, van den Helm, D F, Smeets, N V, Knoers, T, van Roosmalen, G H, Thoonen, C F, Assman-Hulsmans, H H, Ropers, E C, Mariman, H, Kremer
Rok vydání:	1999
Předmět:	Adult Family Health Male Psychiatric Status Rating Scales X Chromosome Psychometrics Genetic Linkage Chromosome Mapping DNA Middle Aged Pedigree Fatal Outcome Intellectual Disability Humans Female Lod Score Aged Follow-Up Studies Microsatellite Repeats
Zdroj:	American journal of medical genetics. 85(3)
ISSN:	0148-7299
Popis:	Four families are described in which mental retardation segregates in an X-linked fashion. Mental retardation was the only consistent clinical finding in all affected males. The degree of retardation varied from mild to profound both between and within families. Linkage analysis localized the genetic defect of MRX43 to Xp22. 31-p21.2, MRX44 to Xp11.3-p11.21, MRX45 to Xp11.3-p11.21, and MRX52 to Xp11.21-q21.33 with LOD scores of2 at straight theta = 0.0 in all four families.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::5a580f964041d34c14edaf9dde9fc869 https://pubmed.ncbi.nlm.nih.gov/10398246 Zobrazit plný text záznamu Plný text