A 1Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson-Golabi-Behmel syndrome. Report, antenatal findings and review

European Journal of Medical Genetics

Volumn 54, Issue 3, 2011, Pages 343-347

  Weichert, Jan ^a   Schröer, Andreas ^a   Amari, Feriel ^a   Siebert, Reiner ^b   Caliebe, Almuth ^b   Nagel, Inga ^b   Gillessen Kaesbach, Gabriele ^c   Mohrmann, Inga ^c   Hellenbroich, Yorck ^c  

^a UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^b UNIVERSITY OF KIEL   (Germany)

^c UNIVERSITY OF LÜBECK   (Germany)

Author keywords

Dysmorphism; GPC3 gene; Overgrowth syndrome; Prenatal; Ultrasound

Indexed keywords

GLYPICAN 3; GLYPICAN; GPC3 PROTEIN, HUMAN;

ADULT; ARTICLE; BRAIN VENTRICLE DILATATION; CASE REPORT; CHROMOSOME DELETION; CHROMOSOME XQ; FEMALE; FETUS; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HYDRAMNIOS; HYPERTELORISM; MACROCEPHALY; MACROSOMIA; NUCHAL TRANSLUCENCY MEASUREMENT; PRENATAL PERIOD; SIMPSON GOLABI BEHMEL SYNDROME; CHROMOSOME MAP; CONGENITAL HEART MALFORMATION; FAMILY HEALTH; FETUS DISEASE; GENE DELETION; GENETICS; GENOTYPE; GIGANTISM; HEART ARRHYTHMIA; MALE; MENTAL DEFICIENCY; MULTIPLE MALFORMATION SYNDROME; PEDIGREE; PREGNANCY; PRENATAL DIAGNOSIS; REVIEW; X CHROMOSOME;

ABNORMALITIES, MULTIPLE; ARRHYTHMIAS, CARDIAC; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, X; FAMILY HEALTH; FEMALE; FETAL DISEASES; GENE DELETION; GENOTYPE; GIGANTISM; GLYPICANS; HEART DEFECTS, CONGENITAL; HUMANS; MALE; MENTAL RETARDATION; PEDIGREE; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 79955476663     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.02.009     Document Type: Article

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