Hereditary motor and sensory neuropathy (HMSN) IA, developmental delay and autism related disorder in a boy with duplication (17)(p11.2p12)

Genetic Counseling

Volumn 15, Issue 1, 2004, Pages 73-80

  Moog, Ute ^a,b   Engelen, J J M ^a,b   Weber, B W ^a   Van Gelderen, M ^a   Steyaert, J ^a,e   Baas, F ^c   Sijstermans, H M J ^d   Fryns, J P ^a,e  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MAASTRICHT UNIVERSITY   (Netherlands)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

^d Sittard Geleen Heerlen   (Netherlands)

^e UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

Charcot Marie Tooth type 1; Duplication (17)(p11.2); Duplication (17)(p11.2p12); HMSN 1A

Indexed keywords

ARTICLE; AUTISM; CASE REPORT; CHROMOSOME 17P; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; COGNITIVE DEFECT; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL DISORDER; EAR MALFORMATION; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; FOREHEAD; GAIT DISORDER; GENE; GENE LOCUS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL; HYPERTELORISM; KARYOTYPE 46,XY; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; METAPHASE; NEUROLOGIC EXAMINATION; PALPEBRAL FISSURE ANOMALY; PHENOTYPE; PHILTRUM; PMP22 GENE; POLYNEUROPATHY; PSYCHOMOTOR DISORDER; RETROSPECTIVE STUDY; SCHOOL CHILD; SOUTHERN BLOTTING; UPPER LIP;

AUTISTIC DISORDER; CHILD; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 17; CYTOGENETICS; GENE DUPLICATION; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HUMANS; MALE; MENTAL RETARDATION;

EID: 1642464639     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (17)

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