Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region

American Journal of Medical Genetics

Volumn 117 A, Issue 3, 2003, Pages 236-244

  Horn, Denise ^a,b   Neitzel, Heidemarie ^a   Tönnies, Holger ^a   Kalscheuer, Vera ^c   Kunze, Jürgen ^a   Hinkel, Georg Klaus ^d   Bartsch, Oliver ^d  

^a HUMBOLDT UNIVERSITY   (Germany)

^b MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^c MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^d DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

Author keywords

Chromosome 18q22; Chromosome 21q21; D21S55; Familial Down syndrome; Fluorescence in situ hybridization; Partial trisomy 21

Indexed keywords

ADULT; ARTICLE; CHROMOSOME 18Q; CHROMOSOME 21Q; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CHROMOSOME PAINTING; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION 18; CLEFT PALATE; CLINICAL ARTICLE; CLINICAL FEATURE; CONDUCTION DEAFNESS; DISEASE ASSOCIATION; DISEASE SEVERITY; DNA PROBE; DOWN SYNDROME; FACE MALFORMATION; FAMILIAL DISEASE; FAMILY HISTORY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GROWTH RETARDATION; HETEROZYGOTE; HUMAN; KARYOTYPING; MALE; MENTAL DEFICIENCY; MONOSOMY; MUSCLE HYPOTONIA; PHENOTYPE; PHENOTYPIC VARIATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT ABORTION; TELOMERE; TRISOMY 21; CASE REPORT; CHROMOSOME 18; CHROMOSOME 21; CHROMOSOME BANDING PATTERN; FAMILY HEALTH; GENE TRANSLOCATION; GENETICS; INFANT; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; PEDIGREE; REVIEW; SYNDROME;

ABNORMALITIES, MULTIPLE; ADULT; CHROMOSOME BANDING; CHROMOSOME BREAKAGE; CHROMOSOMES, HUMAN, PAIR 18; CHROMOSOMES, HUMAN, PAIR 21; DOWN SYNDROME; FAMILY HEALTH; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; MALE; MENTAL RETARDATION; PEDIGREE; SYNDROME; TRANSLOCATION, GENETIC;

EID: 0042821984     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10017     Document Type: Article

References (9)

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