Clinical and molecular description of a fetus in prenatal diagnosis with a rare de novo ring 10 and deletions of 12.59Mb in 10p15.3-p14 and 4.22Mb in 10q26.3

European Journal of Medical Genetics

Volumn 55, Issue 1, 2012, Pages 75-79

  Christopoulou, G ^a   Tzetis, M ^b   Konstantinidou, A E ^b   Tsezou, A ^c   Kanavakis, E ^b   Kitsiou Tzeli, S ^b   Velissariou, V ^a  

^a General Maternity/Gynecological and Pediatric Clinic Mitera   (Greece)

^b UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^c UNIVERSITY OF THESSALY   (Greece)

Author keywords

10p15.3 p14 Deletion; 10q26.3 Deletion; Array CGH; Prenatal diagnosis; Ring chromosome 10

Indexed keywords

TRANSCRIPTION FACTOR GATA 3;

AMNIOCENTESIS; ARTICLE; AUTOPSY; CASE REPORT; CHORIOAMNIONITIS; CHROMOSOME 10; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; ECHOGRAPHY; FETUS; GENETIC ASSOCIATION; GENETIC COUNSELING; GESTATIONAL AGE; HAPLOINSUFFICIENCY; HISTOPATHOLOGY; HUMAN; HYPERTELORISM; MACROCEPHALY; MACROSTOMIA; MALE; MICROGNATHIA; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NOSE MALFORMATION; PES EQUINOVARUS; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; RING CHROMOSOME; SYNDACTYLY;

AMNIOCENTESIS; AUTOPSY; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 10; COMPARATIVE GENOMIC HYBRIDIZATION; FATAL OUTCOME; FEMALE; FETUS; GENETIC ASSOCIATION STUDIES; GESTATIONAL AGE; HUMANS; MALE; PREGNANCY; PREGNANCY OUTCOME; PRENATAL DIAGNOSIS; RING CHROMOSOMES; ULTRASONOGRAPHY, PRENATAL;

EID: 84857193494     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.08.002     Document Type: Article

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