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Volumn 11, Issue 2, 2002, Pages 87-90
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Symmetrical upper limb peromelia and lower limb phocomelia associated with a de novo apparently balanced reciprocal translocation: 46,XX,t(2;12)(p25.1;q24.1)
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Author keywords
Reciprocal translocation; Tetraperomelia
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Indexed keywords
ARTICLE;
AUTOPSY;
CASE REPORT;
CHROMOSOME 12Q;
CHROMOSOME 2P;
CHROMOSOME ANALYSIS;
CHROMOSOME TRANSLOCATION 12;
CHROMOSOME TRANSLOCATION 2;
DNA DETERMINATION;
FEMALE;
FETUS;
FLUORESCENCE IN SITU HYBRIDIZATION;
HUMAN;
HUMAN TISSUE;
LIMB MALFORMATION;
PEROMELIA;
PHOCOMELIA;
PREGNANCY TERMINATION;
PRIORITY JOURNAL;
RECIPROCAL CHROMOSOME TRANSLOCATION;
ROBERTS SYNDROME;
AMNIOCENTESIS;
ARM MALFORMATION;
CHROMOSOME 12;
CHROMOSOME 2;
CHROMOSOME BANDING PATTERN;
CONGENITAL MALFORMATION;
GENE TRANSLOCATION;
GENETICS;
KARYOTYPING;
LEG MALFORMATION;
PREGNANCY;
PRENATAL DEVELOPMENT;
AMNIOCENTESIS;
CHROMOSOME BANDING;
CHROMOSOMES, HUMAN, PAIR 12;
CHROMOSOMES, HUMAN, PAIR 2;
ECTROMELIA;
FEMALE;
FETUS;
HUMANS;
KARYOTYPING;
LOWER EXTREMITY DEFORMITIES, CONGENITAL;
PREGNANCY;
TRANSLOCATION, GENETIC;
UPPER EXTREMITY DEFORMITIES, CONGENITAL;
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EID: 0036009941
PISSN: 09628827
EISSN: None
Source Type: Journal
DOI: 10.1097/00019605-200204000-00002 Document Type: Article |
Times cited : (8)
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References (14)
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