YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome

Human Genetics

Volumn 98, Issue 4, 1996, Pages 460-466

  Nadal, Marga ^a   Milà, Montserrat ^a,b,c,d   Pritchard, Melanie ^a   Mur, Antonio ^b,c   Pujals, Josep ^c   Blouin, Jean Louis ^d   Antonarakis, Stylianos E ^d   Ballesta, Francesca ^b   Estivill, Xavier ^a,b  

^a Institut de Recerca Oncologica   (Spain)

^b HOSPITAL CLÍNIC   (Spain)

^c HOSPITAL DEL MAR   (Spain)

^d GENEVA UNIVERSITY HOSPITALS   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 7;

ARTICLE; CASE REPORT; CHROMOSOME 13; CHROMOSOME 21; CHROMOSOME 21Q; CHROMOSOME MAP; CHROMOSOME TRANSLOCATION; COSMID; DOWN SYNDROME; EPICANTHUS; FACE MALFORMATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENOTYPE; HEART MURMUR; HUMAN; HUMAN CELL; MONOSOMY; MUSCLE HYPOTONIA; PARTIAL TRISOMY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SUPERNUMERARY CHROMOSOME; YEAST ARTIFICIAL CHROMOSOME;

ADULT; BASE SEQUENCE; CHILD; CHROMOSOME MAPPING; CHROMOSOMES, ARTIFICIAL, YEAST; CHROMOSOMES, HUMAN, PAIR 13; CHROMOSOMES, HUMAN, PAIR 21; DNA PRIMERS; DOWN SYNDROME; FACE; FEMALE; GENETIC MARKERS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; MALE; MENTAL RETARDATION; MOLECULAR SEQUENCE DATA; MONOSOMY; PHENOTYPE; POLYMERASE CHAIN REACTION; TOOTH ABNORMALITIES; TRANSLOCATION, GENETIC; TRISOMY;

EID: 0029833510     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050240     Document Type: Article

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