A patient with isochromosome 18q, radial-thumb aplasia, thrombocytopenia, and an unbalanced 10;18 chromosome translocation

American Journal of Medical Genetics

Volumn 133 A, Issue 1, 2005, Pages 93-98

  Sahoo, Trilochan ^a   Naeem, Rizwan ^d   Pham, Kim ^a   Chheng, Sou ^a   Noblin, Sarah T ^b   Bacino, Carlos A ^a   Gambello, Michael J ^c  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF TEXAS   (United States)

^c UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^d Texas Children's Hospital   (United States)

Author keywords

Monosomy 18p; Mosaicism; Radial aplasia; Telomere telomere translocation; Thrombocytopenia; Trisomy 18; Trisomy18q

Indexed keywords

APLASIA; ARTICLE; BRACHYCEPHALY; CESAREAN SECTION; CHROMOSOME ABERRATION; CHROMOSOME TRANSLOCATION; COMPARATIVE STUDY; CONGENITAL MALFORMATION; CORPUS CALLOSUM; CRYPTORCHISM; ECHOCARDIOGRAPHY; HEART ATRIUM SEPTUM DEFECT; HUMAN; HYBRIDIZATION; HYPOTELORISM; ISOCHROMOSOME; LYMPHOBLAST; MICROPENIS; NEWBORN; PARTIAL TRISOMY; PATENT DUCTUS ARTERIOSUS; PHENOTYPE; PRIORITY JOURNAL; RESPIRATORY DISTRESS; SOLUTIO PLACENTAE; SYSTOLIC HEART MURMUR; TELOMERE; THROMBOCYTOPENIA; TRISOMY 18; ULTRASOUND;

ABNORMALITIES, MULTIPLE; CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 10; CHROMOSOMES, HUMAN, PAIR 18; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; ISOCHROMOSOMES; KARYOTYPING; MALE; MODELS, GENETIC; RADIUS; THROMBOCYTOPENIA; THUMB; TRANSLOCATION, GENETIC;

EID: 12944252967     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30535     Document Type: Article

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