Maternal uniparental disomy of chromosome 20: A novel imprinting disorder of growth failure

Genetics in Medicine

Volumn 18, Issue 4, 2016, Pages 309-315

  Mulchandani, Surabhi ^a   Bhoj, Elizabeth J ^a   Luo, Minjie ^a   Powell Hamilton, Nina ^b   Jenny, Kim ^b   Gripp, Karen W ^b   Elbracht, Miriam ^c   Eggermann, Thomas ^c   Turner, Claire L S ^d   Temple, I Karen ^e,f   Mackay, Deborah J G ^f   Dubbs, Holly ^a   Stevenson, David A ^g   Slattery, Leah ^g   Zackai, Elaine H ^a   Spinner, Nancy B ^a   Krantz, Ian D ^a   Conlin, Laura K ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^c UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^d ROYAL DEVON AND EXETER HOSPITAL   (United Kingdom)

^e UNIVERSITY HOSPITAL SOUTHAMPTON NHS FOUNDATION TRUST   (United Kingdom)

^f UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^g STANFORD UNIVERSITY   (United States)

Author keywords

failure to thrive; feeding difficulties; imprinting disorder; maternal uniparental disomy; short stature

Indexed keywords

GROWTH HORMONE; HUMAN GROWTH HORMONE; MICROSATELLITE DNA;

ARTICLE; ASTHMA; BRACE; BREECH PRESENTATION; CALORIC INTAKE; CATCH UP GROWTH; CHILD; CHROMOSOME 20; CHROMOSOME ANALYSIS; CHROMOSOME DELETION 22Q11; CLINICAL ARTICLE; CLINODACTYLY; DOLICOCEPHALY; DYSCEPHALY; EGG ALLERGY; FAILURE TO THRIVE; FAMILY HISTORY; FEEDING DIFFICULTY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE SEQUENCE; GENOME IMPRINTING; GROWTH DISORDER; GROWTH HORMONE DEFICIENCY; HEAD CIRCUMFERENCE; HEART VENTRICLE SEPTUM DEFECT; HOMOZYGOSITY; HORMONAL THERAPY; HORSESHOE KIDNEY; HUMAN; HYPERBILIRUBINEMIA; IDIOPATHIC DISEASE; IDIOPATHIC SHORT STATURE; INFANT; INSULIN TOLERANCE TEST; LORDOSIS; LOW SET EAR; MALE; MEDICAL GENETICS; MEIOSIS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUSCLE HYPOTONIA; NASOGASTRIC TUBE; NEUROIMAGING; NEWBORN INTENSIVE CARE; NONDISJUNCTION; NOSE FEEDING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHOTOTHERAPY; PHYSICAL EXAMINATION; RETROGNATHIA; SCHOOL CHILD; SCOLIOSIS; SHORT STATURE; SHOX GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SMALL FOR DATE INFANT; STOMACH TUBE; SYNDACTYLY; TOOTH ERUPTION; TRISOMY 18; UNIPARENTAL DISOMY; WEIGHT GAIN; CASE REPORT; DEFICIENCY; DNA MICROARRAY; FACIES; GENETICS; GENOTYPE; GROWTH DISORDERS; MOSAICISM; PHENOTYPE; PRESCHOOL CHILD;

CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 20; FACIES; FEMALE; GENOMIC IMPRINTING; GENOTYPE; GROWTH DISORDERS; HUMAN GROWTH HORMONE; HUMANS; INFANT; MALE; MICROSATELLITE REPEATS; MOSAICISM; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; UNIPARENTAL DISOMY;

EID: 84962571309     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2015.103     Document Type: Article

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