Co-existence of 9p deletion and Silver-Russell syndromes in a patient with maternally inherited cryptic complex chromosome rearrangement involving chromosomes 4, 9, and 11

American Journal of Medical Genetics, Part A

Volumn 161, Issue 1, 2013, Pages 179-184

  Hu, Jie ^a,b   Sathanoori, Malini ^a,b   Kochmar, Sally ^a   Madan Khetarpal, Suneeta ^b,c   Mcguire, Marianne ^b,c   Surti, Urvashi ^a,b  

^a UNIVERSITY OF PITTSBURGH   (United States)

^b UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^c CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

Author keywords

ACGH; Chromosome 11p15.5 duplication; Chromosome 9p deletion; Complex chromosome rearrangement; Silver Russell syndrome

Indexed keywords

CD151 ANTIGEN; INTERFERON REGULATORY FACTOR 7; MUCIN 2; MUCIN 5B; MUCIN 6; SIRTUIN 3; SOMATOMEDIN; SOMATOMEDIN B;

ADULT; AP2A2 GENE; ARTICLE; BRSK2 GENE; CASE REPORT; CD151 GENE; CDHR5 GENE; CEND1 GENE; CHILD; CHROMOSOME 11; CHROMOSOME 4; CHROMOSOME 9; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DELETION 4; CHROMOSOME DELETION 9P; CHROMOSOME DELETION 9P24; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; CLEFT PALATE; CLINICAL EVALUATION; CLINICAL FEATURE; CLINODACTYLY; COMPARATIVE GENOMIC HYBRIDIZATION; CTSD GENE; DAILY LIFE ACTIVITY; DEAF1 GENE; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; DRD4 GENE; DUSP8 GENE; DYSLEXIA; FEMALE; FINGER MALFORMATION; FLUORESCENCE IN SITU HYBRIDIZATION; FRONTAL BOSSING; GAIT DISORDER; GENE; GENETIC ASSOCIATION; GENETIC DISORDER; GROWTH RETARDATION; H19 GENE; HRAS GENE; HUMAN; HYPOTELORISM; IFITM1 GENE; IFITM2 GENE; IFITM3 GENE; IGF2 GENE; IGF2AS GENE; IMAGE ANALYSIS; INFANT; INS GENE; INTELLECTUAL IMPAIRMENT; IRF7 GENE; KRTAP5 1 GENE; KYPHOSIS; LIP MALFORMATION; LSP1 GENE; MATERNALLY INHERITED CRYPTIC COMPLEX CHROMOSOME REARRANGEMENT; MIR210 GENE; MOB GENE; MOLECULAR PROBE; MRPL23 GENE; MUC2 GENE; MUC5B GENE; MUC6 GENE; MUSCLE HYPOTONIA; NLRP6 GENE; ONSET AGE; PALPEBRAL FISSURE; PHILTRUM; PHRF1 GENE; PIDD GENE; PKP3 GENE; PNPLA2 GENE; POLR2L GENE; PRIORITY JOURNAL; PSMD13 GENE; PTDSS2 GENE; RASSF7 GENE; RIC8A GENE; RNH1 GENE; RPLP2 GENE; SCT GENE; SHORT STATURE; SIGIRR GENE; SILVER RUSSELL SYNDROME; SIRT3 GENE; SLC25A22 GENE; STICKLER SYNDROME; SYNDACTYLY; SYT8 GENE; TALDO GENE; TH GENE; TNN12 GENE; TNNT3 GENE; TOLLIP GENE; TSPAN4 GENE; UMBILICAL HERNIA;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 4; CHROMOSOMES, HUMAN, PAIR 9; CLEFT PALATE; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENE DUPLICATION; GENE REARRANGEMENT; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MICROARRAY ANALYSIS; PHENOTYPE; SILVER-RUSSELL SYNDROME; TRANSLOCATION, GENETIC; YOUNG ADULT;

EID: 84871687611     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35658     Document Type: Article

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