Duplication of (12)(pter-q13.3) combined with deletion of (22)(pter-q11.2) in a patient with features of both chromosome aberrations

European Journal of Medical Genetics

Volumn 50, Issue 2, 2007, Pages 128-132

  Tyshchenko, Nataliya A ^a,b   Riegel, Mariluce ^a   Evseenkova, Elena G ^b   Zerova, Tatjana E ^b   Gorovenko, Nataliya G ^b   Schinzel, Albert ^a  

^a UNIVERSITY OF ZURICH   (Switzerland)

^b SHUPYK NATIONAL MEDICAL ACADEMY OF POSTGRADUATE EDUCATION   (Ukraine)

Author keywords

Cleft uvula; Congenital cardiac anomaly; Del(22q11.2); Dup(12p); Facial dysmorphism

Indexed keywords

ARTICLE; BIRTH; CARDIOPULMONARY INSUFFICIENCY; CASE REPORT; CHROMOSOME 11Q; CHROMOSOME 12; CHROMOSOME 12P; CHROMOSOME 13Q; CHROMOSOME 22; CHROMOSOME 22P; CHROMOSOME 22Q; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CLEFT PALATE; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; CONGENITAL MALFORMATION; CRANIOFACIAL MALFORMATION; FEMALE; GROWTH DISORDER; HUMAN; HUMAN CELL; KARYOTYPE 46,XX; KARYOTYPE 46,XY; KIDNEY POLYCYSTIC DISEASE; UMBILICAL HERNIA;

CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 12; CHROMOSOMES, HUMAN, PAIR 22; FATAL OUTCOME; FEMALE; GENE DELETION; GENE DUPLICATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; KARYOTYPING;

EID: 33947146541     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2006.10.008     Document Type: Article

References (7)

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