A de novo deletion of 20q11.2-q12 in a boy presenting with abnormal hands and feet, retinal dysplasia, and intractable feeding difficulty

American Journal of Medical Genetics, Part A

Volumn 155, Issue 2, 2011, Pages 409-414

  Hiraki, Yoko ^a,b   Nishimura, Akira ^b   Hayashidani, Michiko ^c   Terada, Yoshiko ^c   Nishimura, Gen ^d   Okamoto, Nobuhiko ^e   Nishina, Sachiko ^f   Tsurusaki, Yoshinori ^b   Doi, Hiroshi ^b   Saitsu, Hirotomo ^b   Miyake, Noriko ^b   Matsumoto, Naomichi ^b  

^a Hiroshima Municipal Center for Child Health and Development   (Japan)

^b YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c HIROSHIMA CITY HOSPITAL   (Japan)

^d TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

^e RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^f NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

Author keywords

20q interstitial deletion; Abnormal hands and feet; Feeding difficulty; Retinal dysplasia

Indexed keywords

ARTICLE; BRAIN ATROPHY; BRAIN VENTRICLE DILATATION; CASE REPORT; CHILD; CHROMOSOME BAND; CHROMOSOME DELETION; CHROMOSOME DELETION 20Q; CLINODACTYLY; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; DYSPHAGIA; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; FOOT MALFORMATION; GASTROESOPHAGEAL REFLUX; HAND MALFORMATION; HEARING LOSS; HIATUS HERNIA; HUMAN; MALE; OXYGEN THERAPY; PATENT DUCTUS ARTERIOSUS; PATENT FORAMEN OVALE; PES EQUINUS; POLYDACTYLY; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY FAILURE; RETINA MALFORMATION; TUBE FEEDING; VOMITING;

ABNORMALITIES, MULTIPLE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 20; DEVELOPMENTAL DISABILITIES; DNA PRIMERS; HUMANS; HYPOKINESIA; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MALE; PHENOTYPE; RETINAL DYSPLASIA;

EID: 79251527247     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33818     Document Type: Article

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