Identification of a submicroscopic 3.2 Mb chromosomal 16q12.2-13 deletion in a child with short stature, mild developmental delay, and craniofacial anomalies, by high-density oligonucleotide array-a recognizable syndrome

American Journal of Medical Genetics, Part A

Volumn 152, Issue 9, 2010, Pages 2365-2371

  Chang, Ching Fen ^a,b   Li, Ling Hui ^a   Wang, Chung Hsing ^c   Tsai, Fuu Jen ^c   Chen, Tsai Chuan ^a   Wu, Jer Yuarn ^a   Chen, Yuan Tsong ^a   Tsai, Anne Chun Hui ^c,d,e  

^a INSTITUTE OF BIOMEDICAL SCIENCES   (Taiwan)

^b NATIONAL YANG MING UNIVERSITY   (Taiwan)

^c CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^d UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^e CHILDREN S HOSPITAL COLORADO   (United States)

Author keywords

Chromosome deletion 16q12.2 13 deletion; Craniofacial anomalies; Psychomotor retardation; Short stature

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 16Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME IDENTIFICATION; CRANIOFACIAL MALFORMATION; CYTOGENETICS; DEVELOPMENTAL DISORDER; DNA MICROARRAY; FACE DYSMORPHIA; HUMAN; HYPERTELORISM; MALE; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SCHOOL CHILD; SHORT STATURE;

ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOMES, HUMAN, PAIR 16; CRANIOFACIAL ABNORMALITIES; DEVELOPMENTAL DISABILITIES; DWARFISM; HUMANS; MALE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; SEQUENCE DELETION;

EID: 77956127708     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33580     Document Type: Article

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