Characterization of the phenotype and definition of the deletion in a new patient with ring chromosome 22

American Journal of Medical Genetics

Volumn 130 A, Issue 2, 2004, Pages 196-199

  Battini, R ^a   Battaglia, A ^a   Bertini, V ^b   Cioni, G ^c   Parrini, B ^a   Rapalini, E ^b   Simi, P ^b   Tinelli, F ^a   Valetto, A ^b  

^a DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^b UNIVERSITY OF PISA   (Italy)

^c UNIVERSITY OF PISA   (Italy)

Author keywords

22q13.3 deletion syndrome; Chromosome aberration; Language impairment; Multiple congenital anomalies mental retardation syndrome; Ring chromosome 22 r(22)

Indexed keywords

ARTICLE; BEHAVIOR DISORDER; CASE REPORT; CHILD; CHROMOSOME 22Q; CHROMOSOME ANALYSIS; CHROMOSOME BAND; CHROMOSOME DELETION; CLINICAL FEATURE; FLUORESCENCE IN SITU HYBRIDIZATION; GROWTH RETARDATION; HEMATOLOGY; HUMAN; LANGUAGE DISABILITY; MALE; MENTAL DEFICIENCY; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RING CHROMOSOME; VISUAL ACUITY;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; FACE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; LANGUAGE DISORDERS; MALE; MENTAL RETARDATION; MUSCLE HYPOTONIA; PHENOTYPE; RING CHROMOSOMES;

EID: 4644298699     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30276     Document Type: Article

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