X-linked intellectual disability related genes disrupted by balanced X-autosome translocations

Detailed molecular characterization of chromosomal rearrangements involving X‐chromosome has been a key strategy in identifying X‐linked intellectual disability‐causing genes. We fine‐mapped the breakpoints in four women with balanced X‐autosome translocations and variable phenotypes, in order to in...

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Veröffentlicht in:	American journal of medical genetics. Part B, Neuropsychiatric genetics Neuropsychiatric genetics, 2015-12, Vol.168B (8), p.669-677
Hauptverfasser:	Moysés-Oliveira, Mariana, Guilherme, Roberta Santos, Meloni, Vera Ayres, Di Battista, Adriana, de Mello, Claudia Berlim, Bragagnolo, Silvia, Moretti-Ferreira, Danilo, Kosyakova, Nadezda, Liehr, Thomas, Carvalheira, Gianna Maria, Melaragno, Maria Isabel
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Child Chromosome Mapping Female Genes, X-Linked Genetics Humans IL1RAPL1 In Situ Hybridization, Fluorescence intellectual disability KIAA2022 Mental Retardation, X-Linked - genetics Translocation, Genetic TSPAN7 X-chromosome ZDHHC15
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