Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22

American Journal of Medical Genetics, Part A

Volumn 155, Issue 7, 2011, Pages 1697-1705

  Melis, Daniela ^a   Genesio, Rita ^a   Cappuccio, Gerarda ^a   Mariaginocchio, Virginia ^a   Casa, Roberto Della ^a   Menna, Giuseppe ^b   Buffardi, Salvatore ^b   Poggi, Vincenzo ^b   Leszle, Anna ^c   Imperati, Floriana ^a   Carella, Massimo ^a   Izzo, Antonella ^a   Del Giudice, Ennio ^a   Nitsch, Lucio ^a   Andria, Generoso ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b SANTOBONO PAUSILIPON CHILDREN S HOSPITAL   (Italy)

^c UNIVERSITY OF PADOVA   (Italy)

Author keywords

Array CGH; Invdupdel(21); Monosomy 21q22; Myelodysplastic syndrome; Trisomy 21q

Indexed keywords

MESSENGER RNA; TRANSCRIPTION FACTOR RUNX1;

ARTICLE; BONE MARROW BIOPSY; CASE REPORT; CHILD; CHROMOSOME 21; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL HEART DISEASE; FACE DYSMORPHIA; FEMALE; GENE; GENE EXPRESSION; HUMAN; HUMAN TISSUE; KARYOTYPE; MENTAL DEFICIENCY; MYELODYSPLASTIC SYNDROME; PERICENTRIC CHROMOSOME INVERSION; PRESCHOOL CHILD; PRIORITY JOURNAL; RUNX1 GENE; SKIN FIBROBLAST; THROMBOCYTOPENIA;

CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 21; COMPARATIVE GENOMIC HYBRIDIZATION; CORE BINDING FACTOR ALPHA 2 SUBUNIT; CYTOGENETIC ANALYSIS; FEMALE; GENE REARRANGEMENT; HEART DEFECTS, CONGENITAL; HUMANS; MENTAL RETARDATION; MONOSOMY; MYELODYSPLASTIC SYNDROMES; PHENOTYPE; RNA, MESSENGER; TRISOMY;

EID: 79959512112     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33976     Document Type: Article

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