Familial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann Syndromes

Molecular Syndromology

Volumn 6, Issue , 2015, Pages 147-151

  Vals, Mari Anne ^a,b,c   Kahre, Tiina ^a,c   Mee, Pille ^a   Muru, Kai ^a   Kallas, Eha ^b,c   Žilina, Olga ^a,d   Tillmann, Vallo ^b,c   Õunap, Katrin ^a,c  

^a TARTU UNIVERSITY HOSPITAL   (Estonia)

^b Children's Clinic   (Estonia)

^c Departments of Pediatrics   (United States)

^d UNIVERSITY OF TARTU   (Estonia)

Author keywords

11p15 duplication; 11p15 imprinting disorders; Beckwith Wiedemann syndrome; Imprinting control region 1; Imprinting control region 2; Silver Russell syndrome

Indexed keywords

ALLERGIC ASTHMA; ARTICLE; ASTIGMATISM; BECKWITH WIEDEMANN SYNDROME; BIRTH WEIGHT; CASE REPORT; CESAREAN SECTION; CHILD; CLINODACTYLY; ENDOCRINOLOGIST; FACIES; FEMALE; FETUS DISTRESS; GASTROESOPHAGEAL REFLUX; GENE CONTROL; GENE DUPLICATION; GROWTH RATE; HEAD CIRCUMFERENCE; HUMAN; HYPERTELORISM; INTRAUTERINE GROWTH RETARDATION; KARYOTYPE; MICROARRAY ANALYSIS; MUSCLE HYPOTONIA; NON INSULIN DEPENDENT DIABETES MELLITUS; OLIGOHYDRAMNIOS; PERINATAL PERIOD; PHENOTYPE; POSTNATAL GROWTH; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; RESPIRATORY TRACT INFECTION; SILVER RUSSELL SYNDROME;

EID: 84942094460     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000437061     Document Type: Article

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