Clinical and cytogenetic features of a Potocki-Lupski syndrome with the shortest 0.25Mb microduplication in 17p11.2 including RAI1

Brain and Development

Volumn 35, Issue 7, 2013, Pages 681-685

  Lee, Cha Gon ^a   Park, Sang Jin ^b   Yim, Shin Young ^a   Sohn, Young Bae ^a  

^a Ajou University School of Medicine   (South Korea)

^b MG MED Inc   (South Korea)

Author keywords

17p11.2; Array CGH; Duplication; Potocki Lupski syndrome (PTLS); RAI1

Indexed keywords

ANAMNESIS; ANTHROPOMETRY; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 17P; CHROMOSOME DUPLICATION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; DOLICHOCEPHALY; DSM-IV; FACE DYSMORPHIA; FAILURE TO THRIVE; FEEDING DISORDER; FLATFOOT; GENE; HUMAN; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; KARYOTYPE 46,XY; LANGUAGE DELAY; MALE; MENTAL DEFICIENCY; MICRODUPLICATION; MOTOR PERFORMANCE; MUNCHNER FUNKTIONELLE ENTWICKLUNGS DIAGNOSTIC SCALE; PHENOTYPE; POTOCKI LUPSKI SYNDROME; PRESCHOOL CHILD; PRESCHOOL EXPRESSIVE LANGUAGE SCALE; RAI1 GENE; SOCIAL ADAPTATION; SOCIAL MATURITY SCALE; WECHSLER INTELLIGENCE SCALE;

CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 17; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; HUMANS; MALE; PHENOTYPE; SMITH-MAGENIS SYNDROME; TRISOMY;

EID: 84879459884     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2012.09.009     Document Type: Article

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