Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions

Clinical Genetics

Volumn 80, Issue 1, 2011, Pages 31-38

  Willemsen, Mh ^a   Beunders, G ^b   Callaghan, M ^c   de Leeuw, N ^a   Nillesen, Wm ^a   Yntema, Hg ^a   van Hagen, Jm ^b   Nieuwint, Awm ^b   Morrison, N ^c   Keijzers Vloet, Stm ^a   Hoischen, A ^a   Brunner, Hg ^a   Tolmie, J ^c   Kleefstra, T ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

Author keywords

Chromosome 9q; EHMT1; Familial cases; Kleefstra syndrome; Mosaicism

Indexed keywords

EUCHROMATIN HISTONE METHYLTRANSFERASE 1; HISTONE METHYLTRANSFERASE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CHILD; CHROMOSOME 9Q; CHROMOSOME ANALYSIS; CHROMOSOME MOSAICISM; CHROMOSOME TRANSLOCATION; CLINICAL ARTICLE; CLINICAL ASSESSMENT; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; FAMILIAL DISEASE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; HYPOSPADIAS; INGUINAL HERNIA; INTERSTITIAL CHROMOSOME DELETION; KLEEFSTRA SYNDROME; MALE; MULTIPLE MALFORMATION SYNDROME; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUSCLE HYPOTONIA; MUSCLE SPASM; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; VERTICAL TRANSMISSION;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 9; FEMALE; HISTONE-LYSINE N-METHYLTRANSFERASE; HUMANS; INFANT; LANGUAGE DEVELOPMENT DISORDERS; MALE; MOSAICISM; MUSCLE HYPOTONIA; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; SEQUENCE DELETION; SYNDROME; TELOMERE;

EID: 79958148930     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01607.x     Document Type: Article

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