Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23-pter

American Journal of Medical Genetics, Part A

Volumn 143, Issue 20, 2007, Pages 2417-2422

  Gruchy, Nicolas ^a   Jacquemont, Marie Line ^a   Lyonnet, Stanislas ^b   Labrune, Philippe ^c   El Kamel, Imen ^a   Siffroi, Jean Pierre ^a   Portnoï, Marie France ^a,d  

^a ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c HÔPITAL ANTOINE BÉCLÈRE   (France)

^d HÔPITAL SAINT ANTOINE   (France)

Author keywords

Chromosome 2p; Deletion; Inverted duplication; Trisomy 2p syndrome

Indexed keywords

ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CASE REPORT; CHROMOSOME 2P; CHROMOSOME DUPLICATION; CHROMOSOME INVERSION; CHROMOSOME INVERTED DUPLICATION; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; CYTOGENETICS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOREHEAD; GENE; GENE DUPLICATION; GENE REARRANGEMENT; HUMAN; HYPERTELORISM; KARYOTYPE 46,XX; LOW SET EAR; MOLECULAR CLONING; MOLECULAR GENETICS; NOSE MALFORMATION; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; SCHOOL CHILD; SCOLIOSIS; SKULL MALFORMATION; SNTG2 GENE; TPO GENE; TRISOMY;

CHILD; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 2; CYTOGENETIC ANALYSIS; DEVELOPMENTAL DISABILITIES; FEMALE; GENE DUPLICATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INVERSION, CHROMOSOME; PHENOTYPE; TRISOMY;

BACTERIA (MICROORGANISMS);

EID: 34848924335     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31931     Document Type: Article

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