Prenatal diagnosis of the duplication 17p11.2 associated with Potocki-Lupski syndrome in a foetus presenting with mildly dysmorphic features

European Journal of Medical Genetics

Volumn 55, Issue 12, 2012, Pages 723-726

  Popowski, T ^a,b   Molina Gomes, D ^a   Loeuillet, L ^a   Boukobza, P ^a   Roume, J ^a   Vialard, F ^a,b  

^a Poissy Saint Germain en Laye University Hospital   (France)

^b LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

Author keywords

Potocki Lupski syndrome; Prenatal BACs on Beads ; Prenatal diagnosis

Indexed keywords

ADULT; ARTICLE; AUTOPSY; BODY DYSMORPHIC DISORDER; CASE REPORT; CHROMOSOME DUPLICATION; CHROMOSOME DUPLICATION 17P11.2; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL MALFORMATION; CROWN RUMP LENGTH; DISEASE ASSOCIATION; FEMALE; FETUS; FETUS ECHOGRAPHY; GENETIC COUNSELING; GENETIC DISORDER; HETEROTOPIA; HUMAN; HUMAN TISSUE; HYPERTELORISM; KIDNEY PELVIS; MYASTHENIA GRAVIS; PATERNAL AGE; PHILTRUM; POTOCKIE LUPSKI SYNDROME; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS;

ABNORMALITIES, MULTIPLE; ADULT; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; FETUS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; PREGNANCY; PRENATAL DIAGNOSIS; SMITH-MAGENIS SYNDROME; ULTRASONOGRAPHY, PRENATAL;

EID: 84869883251     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.08.008     Document Type: Article

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