De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 10, 2012, Pages 2557-2563

  Burrage, Lindsay C ^a,b   Person, Richard E ^a   Flores, Angela ^c   Villanos, Maria Theresa M ^c   Bi, Weimin ^a   Wiszniewska, Joanna ^a   Bacino, Carlos A ^a,b  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b TEXAS CHILDREN S HOSPITAL   (United States)

^c TEXAS TECH UNIVERSITY HEALTH SCIENCES CENTER   (United States)

Author keywords

15q11 q13 duplication; Prader Willi Syndrome; Uniparental trisomy

Indexed keywords

ANTIBIOTIC AGENT; VITAMIN;

APGAR SCORE; ARTICLE; BIRTH WEIGHT; BREECH PRESENTATION; CASE REPORT; CERVICAL SPINAL CORD; CHROMOSOME 15Q; CHROMOSOME DUPLICATION; COMPARATIVE GENOMIC HYBRIDIZATION; DIABETES MELLITUS; DNA METHYLATION; FEEDING DISORDER; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLOW UP; HEAD CIRCUMFERENCE; HUMAN; HYPERPIGMENTATION; INFANT; INTERSTITIAL CHROMOSOME DUPLICATION; INTUBATION; KARYOTYPING; MATERNAL AGE; MUSCLE HYPOTONIA; NEWBORN; NEWBORN INTENSIVE CARE; NOSE FEEDING; NUCLEAR MAGNETIC RESONANCE IMAGING; PRADER WILLI SYNDROME; PRENATAL DRUG EXPOSURE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SOUTHERN BLOTTING; TRISOMY; UNIPARENTAL TRISOMY; URINARY TRACT INFECTION;

ADULT; CHROMOSOMES, HUMAN, PAIR 15; DNA COPY NUMBER VARIATIONS; FEMALE; HUMANS; INFANT; PHENOTYPE; PRADER-WILLI SYNDROME; TRISOMY; UNIPARENTAL DISOMY;

EID: 84866498243     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35549     Document Type: Article

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