Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and dandy-walker malformation

American Journal of Medical Genetics, Part A

Volumn 146, Issue 22, 2008, Pages 2944-2949

  Van Steensel, M A M ^a,b   Vreeburg, M ^a,b   Engelen, J ^a,b   Ghesquiere, S ^a   Stegmann, A P A ^a   Herbergs, J ^a,b   Van Lent, J ^a   Smeets, B ^a,b   Vles, J H ^a,b  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MAASTRICHT UNIVERSITY   (Netherlands)

Author keywords

Chromosome X; Cortical heteroropia; Dandy Walker; Deletion; Ichthyosis; Mental retardation; SNP array

Indexed keywords

DNA;

ADULT; ARTICLE; BRAIN CORTEX; BRAIN DEVELOPMENT; CASE REPORT; CHROMOSOME DELETION; CHROMOSOME XP; CYTOGENETICS; DANDY WALKER SYNDROME; EPILEPSY; FLUORESCENCE IN SITU HYBRIDIZATION; HETEROTOPIA; HUMAN; ICHTHYOSIS; MALE; MENTAL DEFICIENCY; MENTAL RETARDATION MALFORMATION SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SHORT STATURE; SINGLE NUCLEOTIDE POLYMORPHISM; X CHROMOSOME INACTIVATION;

ABNORMALITIES, MULTIPLE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, X; DANDY-WALKER SYNDROME; EPILEPSY; GROWTH DISORDERS; HUMANS; ICHTHYOSIS, X-LINKED; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT; MENTAL RETARDATION; PHENOTYPE; SEX CHROMOSOME ABERRATIONS; SYNDROME; YOUNG ADULT;

EID: 56049104701     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32473     Document Type: Article

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