The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: Two novel de novo balanced translocations associated with acampomelic campomelic dysplasia

BMC Medical Genetics

Volumn 14, Issue 1, 2013, Pages

  Fonseca, Ana Carolina S ^a   Bonaldi, Adriano ^a   Bertola, Débora R ^a   Kim, Chong A ^a   Otto, Paulo A ^a   Vianna Morgante, Angela M ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Acampomelic campomelic dysplasia; Apparently balanced translocation; SOX9 regulatory region; Testis specific SOX9 enhancer

Indexed keywords

TRANSCRIPTION FACTOR SOX9; UBIQUITIN PROTEIN LIGASE E3;

ACAMPOMELIC CAMPOMELIC DYSPLASIA; APGAR SCORE; APNEA; ARTICLE; ARTIFICIAL VENTILATION; BIRTH WEIGHT; BODY HEIGHT; BODY WEIGHT; BONE AGE; BONE DISEASE; BONE RADIOGRAPHY; BRADYCARDIA; BREECH PRESENTATION; BRONCHITIS; BRONCHOMALACIA; CASE REPORT; CESAREAN SECTION; CHILD; CHROMOSOME 17; CHROMOSOME ANALYSIS; CHROMOSOME G BAND; CHROMOSOME REARRANGEMENT; CLEFT PALATE; COMPARATIVE GENOMIC HYBRIDIZATION; COMPRESSION; DYSPLASIA; FEMALE; GASTROSTOMY; GENE CLUSTER; GENE MAPPING; GENETIC COUNSELING; HEAD CIRCUMFERENCE; HETEROZYGOTE; HOSPITAL DISCHARGE; HUMAN; HYPOPLASIA; INTENSIVE CARE UNIT; KARYOTYPE; KYPHOSCOLIOSIS; MALE; MICROGNATHIA; OSSIFICATION; PALLOR; PHYSICAL EXAMINATION; POINT MUTATION; PROGENY; RESPIRATORY DISTRESS; RETROGNATHIA; SCOLIOSIS; SEX DETERMINATION; SKELETON MALFORMATION; SUPPLEMENTATION; TELOMERE; TESTIS DEVELOPMENT; THORACOLUMBAR SCOLIOSIS; THORAX RADIOGRAPHY; TRACHEOSTOMY; WALKING;

CAMPOMELIC DYSPLASIA; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 17; CHROMOSOMES, HUMAN, PAIR 20; CHROMOSOMES, HUMAN, PAIR 7; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MULTIGENE FAMILY; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; SEQUENCE ANALYSIS, DNA; SOX9 TRANSCRIPTION FACTOR; TESTIS; TRANSLOCATION, GENETIC;

EID: 84877072005     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-14-50     Document Type: Article

References (33)

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