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Volumn 45, Issue 1-2, 1996, Pages 245-250
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A new case of Beckwith-Wiedemann syndrome with an 11p15 duplication of paternal origin [46,XY,-21,+der(21), t(11;21)(p15.2;q22.3)pat]
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Author keywords
Beckwith Wiedemann syndrome; Duplication 11p15; Genomic imprinting; Translocation (11; 21); Trisomy 11p
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Indexed keywords
ABDOMINAL DISTENSION;
BECKWITH WIEDEMANN SYNDROME;
CASE REPORT;
CHROMOSOME 11P;
CHROMOSOME DUPLICATION;
CHROMOSOME TRANSLOCATION 11;
CONFERENCE PAPER;
CONGENITAL MALFORMATION;
DNA DETERMINATION;
GENOME IMPRINTING;
GIGANTISM;
HUMAN;
HUMAN CELL;
INHERITANCE;
KARYOTYPE;
MACROGLOSSIA;
MALE;
MENTAL DEFICIENCY;
PHENOTYPE;
PRESCHOOL CHILD;
TRISOMY;
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EID: 0029762721
PISSN: 00015660
EISSN: None
Source Type: Journal
DOI: 10.1017/s0001566000001392 Document Type: Conference Paper |
Times cited : (6)
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References (0)
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