Phenotypic and molecular characterization of 19q12q13.1 deletions: A report of five patients

American Journal of Medical Genetics, Part A

Volumn 164, Issue 1, 2014, Pages 62-69

  Chowdhury, Shimul ^a,g   Bandholz, Anne M ^b   Parkash, Sandhya ^c   Dyack, Sarah ^c   Rideout, Andrea L ^c   Leppig, Kathleen A ^d   Thiese, Heidi ^d   Wheeler, Patricia G ^e   Tsang, Marilyn ^f   Ballif, Blake C ^b,h   Shaffer, Lisa G ^b,h   Torchia, Beth S ^b   Ellison, Jay W ^b   Rosenfeld, Jill A ^b  

^a SACRED HEART MEDICAL CENTER   (United States)

^b PERKINELMER INC   (United States)

^c IWK HEALTH CENTRE   (Canada)

^d CENTER FOR HEALTH STUDIES   (United States)

^e NEMOURS CHILDREN S HOSPITAL   (United States)

^f Sutter Medical Center   (United States)

^g QUEST DIAGNOSTICS NICHOLS INSTITUTE   (United States)

^h Paw Print Genetics Genetic Veterinary Sciences Inc   (United States)

Author keywords

19q12 deletion; 19q13.11 deletion syndrome; ACGH; Developmental delay; Ectodermal dysplasia; Microarray testing; Microdeletion

Indexed keywords

OLIGONUCLEOTIDE;

ARTICLE; CEBPA GENE; CHILD; CHROMOSOME 19Q13 MICRODELETION SYNDROME; CHROMOSOME DELETION; CHROMOSOME DELETION 19Q12Q13; CHST8 GENE; CLINICAL ARTICLE; COHORT ANALYSIS; DEVELOPMENTAL DISORDER; ECTODERMAL DYSPLASIA; ECTRODACTYLY; FACE DYSMORPHIA; FACIES; FEEDING DIFFICULTY; FEMALE; GENE; GENE DELETION; GENOME ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; GROWTH RETARDATION; HUMAN; HYPOSPADIAS; MALE; MICROARRAY ANALYSIS; MICROCEPHALY; MOLECULAR DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SPEECH DELAY; UROGENITAL TRACT MALFORMATION; WTIP GENE; ADOLESCENT; CASE REPORT; CHROMOSOME 19; COMPARATIVE GENOMIC HYBRIDIZATION; GENETIC DISEASES, INBORN; GENETICS; INFANT; MULTIPLE MALFORMATION SYNDROME; PHENOTYPE; SYNDROME;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 19; COMPARATIVE GENOMIC HYBRIDIZATION; FACIES; FEMALE; GENETIC DISEASES, INBORN; HUMANS; INFANT; MALE; PHENOTYPE; SYNDROME;

EID: 84890793180     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36201     Document Type: Article

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