Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion

Journal of Human Genetics

Volumn 57, Issue 3, 2012, Pages 191-196

  Okamoto, Nana ^a   Hayashi, Shin ^a   Masui, Ayako ^b   Kosaki, Rika ^c   Oguri, Izumi ^d   Hasegawa, Tomoko ^e   Imoto, Issei ^f   Makita, Yoshio ^g   Hata, Akira ^h   Moriyama, Keiji ^a   Inazawa, Johji ^a  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^b University of Tokyo   (Japan)

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

^d SHIZUOKA SAISEIKAI GENERAL HOSPITAL   (Japan)

^e Genetic Support and Consultation Office   (Japan)

^f UNIVERSITY OF TOKUSHIMA   (Japan)

^g ASAHIKAWA MEDICAL COLLEGE   (Japan)

^h CHIBA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

10p interstitial deletion; array CGH; developmental retardation; large tongue; midface retrusion; wide mouth

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME DELETION; CLINICAL ASSESSMENT; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL MALFORMATION; CONTROLLED STUDY; FACE MALFORMATION; FEMALE; GROWTH HORMONE DEFICIENCY; HUMAN; HUMAN TISSUE; INTERSTITIAL CHROMOSOME DELETION; MALE; MENTAL DEFICIENCY; PHENOTYPE; PRESCHOOL CHILD; PSYCHOMOTOR DEVELOPMENT; QUANTITATIVE ANALYSIS; SCHOOL CHILD; SHORT STATURE;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 10; COMPARATIVE GENOMIC HYBRIDIZATION; FACIES; FEMALE; HUMANS; INFANT; INTELLECTUAL DISABILITY; MALE; PHENOTYPE;

EID: 84858991349     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2011.154     Document Type: Article

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