Compound heterozygous microdeletion of chromosome 15q13.3 region in a child with hypotonia, impaired vision, and global developmental delay

American Journal of Medical Genetics, Part A

Volumn 164, Issue 7, 2014, Pages 1815-1820

  Prasun, Pankaj ^a   Hankerd, Michael ^b   Kristofice, Melissa ^b   Scussel, Lindsey ^a   Sivaswamy, Lalitha ^a   Ebrahim, Salah ^a,b  

^a WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b DETROIT MEDICAL CENTER   (United States)

Author keywords

15q13.3 homozygous deletion; CHRNA7; Chromosomal microarray; Compound heterozygous microdeletion; Microarray comparative genomic hybridization (array CGH); TRPM1

Indexed keywords

BUNGAROTOXIN RECEPTOR; FANCONI ANEMIA GROUP D2 PROTEIN; TRANSIENT RECEPTOR POTENTIAL CHANNEL M1;

15Q13.3 DELETION; ARTICLE; CASE REPORT; CHILD; CHRNA7 GENE; CHROMOSOME 15Q; CHROMOSOME DELETION; CHROMOSOME SIZE; CONSANGUINITY; DEVELOPMENTAL DISORDER; ELECTRORETINOGRAPHY; EVOKED VISUAL RESPONSE; EYE FIXATION; EYE TRACKING; FAN1 GENE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; HEAD CIRCUMFERENCE; HUMAN; KARYOTYPE; KLF13 GENE; MIR211 GENE; MTMR10 GENE; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; OTUD7A GENE; PRIORITY JOURNAL; TRPM1 GENE; VISUAL IMPAIRMENT; CHROMOSOME 15; CHROMOSOME DISORDERS; COMPARATIVE GENOMIC HYBRIDIZATION; GENETIC ASSOCIATION; GENETICS; HETEROZYGOTE; INFANT; INTELLECTUAL DISABILITY; MALE; PHENOTYPE; SEIZURES; VISUAL DISORDER;

CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 15; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; GENETIC ASSOCIATION STUDIES; HETEROZYGOTE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INTELLECTUAL DISABILITY; MALE; MUSCLE HYPOTONIA; PHENOTYPE; SEIZURES; VISION DISORDERS;

EID: 84902548225     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36535     Document Type: Article

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