Trisomy 1q42.3-qter and monosomy 21q22.3-qter associated with ear anomaly, facial dysmorphology, psychomotor retardation, and epilepsy: Delineation of a new syndrome [3]

American Journal of Medical Genetics, Part A

Volumn 143, Issue 17, 2007, Pages 2065-2069

  Tuschl, Karin ^a   Fritz, Barbara ^b   Herle, Marion ^a   Fonatsch, Christa ^c   Bodamer, Olaf A ^a  

^a ST ANNA CHILDREN S HOSPITAL   (Austria)

^b PHILIPPS UNIVERSITY MARBURG   (Germany)

^c MEDICAL UNIVERSITY OF VIENNA   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

VALPROIC ACID;

ANTIBIOTIC THERAPY; ATRESIA; BIRTH WEIGHT; CASE REPORT; CHROMOSOME 21; CHROMOSOME ABERRATION; CHROMOSOME BANDING PATTERN; COGNITIVE DEVELOPMENT; EAR MALFORMATION; ELECTROENCEPHALOGRAM; EPILEPSY; FACE DYSMORPHIA; FEMALE; HEAD CIRCUMFERENCE; HUMAN; INFANT; LETTER; MENTAL DEFICIENCY; METAPHASE; MICROTIA; MONOSOMY 21Q; MUSCLE HYPOTONIA; NEUROLOGIC EXAMINATION; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SEIZURE; TRISOMY 1Q; URINARY TRACT INFECTION; VAGINAL DELIVERY; AUTOSOME; CHROMOSOME 1Q; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CLINICAL EXAMINATION; CLINICAL FEATURE; CONGENITAL MALFORMATION; DISEASE ASSOCIATION; GENE DUPLICATION; MONOSOMY; PREGNANCY COMPLICATION; TREATMENT OUTCOME; TRISOMY;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 21; EAR, EXTERNAL; EPILEPSY; FACIAL BONES; FEMALE; HUMANS; INFANT; PSYCHOMOTOR DISORDERS; SYNDROME; TRISOMY;

EID: 34548319487     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31792     Document Type: Letter

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