A novel maternally inherited 8q24.3 and a rare paternally inherited 14q23.3 CNVs in a family with neurodevelopmental disorders

American Journal of Medical Genetics, Part A

Volumn 167, Issue 8, 2015, Pages 1921-1926

  Hu, Jie ^a,b   Sathanoori, Malini ^a,b   Kochmar, Sally ^a   Azage, Meron ^c   Mann, Susan ^a   Madan Khetarpal, Suneeta ^c   Goldstein, Amy ^c   Surti, Urvashi ^a,b  

^a UNIVERSITY OF PITTSBURGH   (United States)

^b UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^c CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

Author keywords

8q24.3 deletion; ACGH; ASD; DD; GPHN deletion; LYNX deletion; Seizures

Indexed keywords

LAMOTRIGINE; PHENYTOIN;

ANTISOCIAL BEHAVIOR; ANXIETY DISORDER; ARTICLE; ATTENTION DEFICIT DISORDER; BODY HEIGHT; CASE REPORT; CAUCASIAN; CESAREAN SECTION; CHILD; CHILD BEHAVIOR CHECKLIST; CHROMOSOME 14Q; CHROMOSOME 8Q; CHROMOSOME ANALYSIS; COPY NUMBER VARIATION; DEPRESSION; DEVELOPMENTAL DISORDER; ELECTROENCEPHALOGRAPHY; ENDOSCOPY; FEMALE; FETUS DISTRESS; GASTROESOPHAGEAL REFLUX; GESTATIONAL AGE; HEAD CIRCUMFERENCE; HUMAN; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; OBSESSION; PANIC; PERVASIVE DEVELOPMENTAL DISORDER NOT OTHERWISE SPECIFIED; PRIORITY JOURNAL; SCHOOL CHILD; SCREAMING SYNDROME; SINGLE NUCLEOTIDE POLYMORPHISM; SLEEP DISORDER; SOCIAL INTERACTION; STANFORD-BINET INTELLIGENCE SCALE; STEREOTYPY; TONIC CLONIC SEIZURE; CHROMOSOME 14; CHROMOSOME 8; FLUORESCENCE IN SITU HYBRIDIZATION; GENETICS; GENOME IMPRINTING; MALE; MENTAL DISEASE; PREGNANCY;

CHILD; CHROMOSOMES, HUMAN, PAIR 14; CHROMOSOMES, HUMAN, PAIR 8; DNA COPY NUMBER VARIATIONS; FEMALE; GENOMIC IMPRINTING; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; NEURODEVELOPMENTAL DISORDERS; PREGNANCY;

EID: 84937966462     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37110     Document Type: Article

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