A tandem duplication of chromosome 21 in a newborn showing a phenotype inconsistent with down syndrome

American Journal of Medical Genetics, Part A

Volumn 152, Issue 4, 2010, Pages 1043-1045

  Martinoli, Emanuela ^a   Zuccotti, Gian Vincenzo ^b   Pogliani, Laura ^b   Volontè, Marinella ^a   Venturin, Marco ^a   Fortina, Paolo ^c,d   Ertel, Adam ^c   Redaelli, Serena ^e   Riva, Paola ^a   Dalprà, Leda ^e  

^a UNIVERSITY OF MILAN   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c THOMAS JEFFERSON UNIVERSITY   (United States)

^d SAPIENZA UNIVERSITY OF ROME   (Italy)

^e UNIVERSITY OF MILANO BICOCCA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

BRAIN DISEASE; CASE REPORT; CHROMOSOME 21; CHROMOSOME DUPLICATION; CLINICAL FEATURE; COGNITIVE DEFECT; CORPUS CALLOSUM AGENESIS; DIAGNOSTIC IMAGING; DOWN SYNDROME; FAILURE TO THRIVE; GENOTYPE; HUMAN; IMAGE ANALYSIS; LETTER; NEWBORN; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; SINGLE NUCLEOTIDE POLYMORPHISM; SYMPTOM;

BASE PAIRING; BRAIN; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 21; DOWN SYNDROME; FEMALE; GENE DUPLICATION; GENOME, HUMAN; HUMANS; INFANT, NEWBORN; KARYOTYPING; MAGNETIC RESONANCE IMAGING; PHENOTYPE; PREGNANCY;

EID: 77950439508     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33335     Document Type: Letter

References (6)

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