Clinical and molecular cytogenetic studies in a case with partial trisomy 12p due to a de novo supernumerary ring chromosome

Genetic Counseling

Volumn 15, Issue 4, 2004, Pages 405-410

  Ausems, M G E M ^a   Schuil, J ^b   Van Raveswaaij Arts, C ^c   De Pater, J M ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b Bartimeus Institute for the Visually Impaired   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Mosaicism; Ring chromosome 12; Trisomy 12p syndrome

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 12P; CYTOGENETICS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLOW UP; HUMAN; KARYOTYPE; MOSAICISM; NEUROLOGIC EXAMINATION; OBESITY; PARTIAL TRISOMY; PHYSICAL EXAMINATION; SUPERNUMERARY CHROMOSOME; TRISOMY 12; VISUAL ACUITY;

CHILD; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 12; CYTOGENETIC ANALYSIS; DEVELOPMENTAL DISABILITIES; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MOSAICISM; PHENOTYPE; RING CHROMOSOMES; TRANSLOCATION, GENETIC; TRISOMY; VISION DISORDERS; VISUAL PATHWAYS;

EID: 11144335219     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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