A large family with subtelomeric translocation t(18;21)(q23;q22.1) and molecular breakpoint in the Down syndrome critical region

Human Genetics

Volumn 100, Issue 5-6, 1997, Pages 669-675

  Bartsch, Oliver ^a   Hinkel, Georg K ^a   Petersen, Michael B ^b,c   König, Ulrich ^b   Bugge, Merete ^b   Mikkelsen, Margareta ^b   Avramopoulos, Dimitris ^c   Morris, Michael ^d   Antonarakis, Stylianos E ^d  

^a UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

^b JOHN F KENNEDY INSTITUTE   (Denmark)

^c AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

^d Hôpital Universitaire   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 18; CHROMOSOME 21; CHROMOSOME BREAKAGE; CHROMOSOME PAINTING; CHROMOSOME TRANSLOCATION 18; CLINICAL FEATURE; CONTROLLED STUDY; COSMID; CRANIOFACIAL MALFORMATION; CYTOGENETICS; DOWN SYNDROME; EPILEPSY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LOCATION; GENE MAPPING; HUMAN; HUMAN CELL; INTELLIGENCE; KARYOTYPE; MALE; MENTAL DEFICIENCY; PARTIAL MONOSOMY; PARTIAL TRISOMY; PRESCHOOL CHILD; PRIORITY JOURNAL;

ADULT; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 18; CHROMOSOMES, HUMAN, PAIR 21; DOWN SYNDROME; FEMALE; HUMANS; INFANT; MALE; MENTAL RETARDATION; PEDIGREE; TELOMERE; TRANSLOCATION, GENETIC;

EID: 0031410635     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050571     Document Type: Article

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