Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism

European Journal of Human Genetics

Volumn 20, Issue 7, 2012, Pages 729-733

  Koolen, David A ^a   Dupont, Juliette ^b   De Leeuw, Nicole ^a   Vissers, Lisenka E L M ^a   Van Den Heuvel, Simone P A ^a   Bradbury, Alyson ^c   Steer, James ^c   De Brouwer, Arjan P M ^a   Ten Kate, Leo P ^d   Nillesen, Willy M ^a   De Vries, Bert B A ^a   Parker, Michael J ^c  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b HOSPITAL DE SANTA MARIA   (Portugal)

^c SHEFFIELD CHILDREN'S NHS FOUNDATION TRUST   (United Kingdom)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

17q21.31; familial; germline mosaicism; microdeletion

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CELL NUCLEUS; CHILD; CHROMOSOME 17Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME MICRODELETION SYNDROME; DNA DETERMINATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC POLYMORPHISM; HUMAN; MALE; MONOSOMY; MOSAICISM; PRIORITY JOURNAL; SCHOOL CHILD; SIBLING;

ADOLESCENT; ADULT; CELL NUCLEUS; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 17; CONGENITAL ABNORMALITIES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HAPLOTYPES; HOMOLOGOUS RECOMBINATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INTELLECTUAL DISABILITY; INTERPHASE; LYMPHOCYTES; MALE; METAPHASE; MOSAICISM; PEDIGREE; RISK FACTORS; SYNDROME;

EID: 84863717555     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.1     Document Type: Article

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