A Turkish patient with large 17p11.2 deletion presenting with Smith Magenis syndrome

Genetic Counseling

Volumn 22, Issue 1, 2011, Pages 11-19

  Tug, Esra ^a   Cine, N ^b   Aydin, H ^a  

^a ABANT IZZET BAYSAL UNIVERSITY   (Turkey)

^b KOCAELI UNIVERSITY   (Turkey)

Author keywords

17p11.2 p12 interstitial deletion; Array comparative genomic hybridization; Smith Magenis syndrome

Indexed keywords

OLIGONUCLEOTIDE;

ARTICLE; BEHAVIOR DISORDER; BODY HEIGHT; BODY WEIGHT; BRACHYCEPHALY; BRACHYDACTYLY; CASE REPORT; CHROMOSOME 17; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; DYSPNEA; ELECTROENCEPHALOGRAPHY; FACE DYSMORPHIA; FACE MALFORMATION; FEEDING DISORDER; FEMALE; GENE DELETION; GENE SEQUENCE; HEARING LOSS; HUMAN; HYPERSALIVATION; HYPERTELORISM; INFANTILE HYPOTONIA; INTERSTITIAL CHROMOSOME DELETION; JOINT HYPERMOBILITY; MACROSTOMIA; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; NOSE MALFORMATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OTITIS MEDIA; PALATE MALFORMATION; SCOLIOSIS; SEIZURE; SMITH MAGENIS SYNDROME; STRABISMUS; TENDON REFLEX; TOOTH MALFORMATION; TURKEY (REPUBLIC);

BRAIN; CHILD; CHILD BEHAVIOR DISORDERS; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 17; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENETIC COUNSELING; HUMANS; MAGNETIC RESONANCE IMAGING; MENTAL RETARDATION; PHENOTYPE; SELF-INJURIOUS BEHAVIOR; SMITH-MAGENIS SYNDROME;

EID: 79955698280     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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