Partial monosomy 3p (3p26.2→pter) and partial trisomy 5q (5q34→qter) in a girl with coarctation of the aorta, congenital heart defects, short stature, microcephaly and developmental delay

Genetic Counseling

Volumn 23, Issue 3, 2012, Pages 405-413

  Chen, C P ^a,b,c,d,e   Lin, S P ^b,f   Chen, M R ^b,f   Su, Y N ^g   Chern, S R ^b   Liu, Y P ^b,f   Su, J W ^b,h   Lee, M S ^b   Wang, W ^b,i  

^a MACKAY MEDICAL COLLEGE   (Taiwan)

^b MACKAY MEMORIAL HOSPITAL   (Taiwan)

^c ASIA UNIVERSITY   (Taiwan)

^d CHINA MEDICAL UNIVERSITY   (Taiwan)

^e NATIONAL YANG MING UNIVERSITY   (Taiwan)

^f NURSING AND MANAGEMENT COLLEGE   (Taiwan)

^g NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^h CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

ⁱ TATUNG UNIVERSITY   (Taiwan)

Author keywords

CHL1; CNTN4; Coarctation of the aorta; Monosomy 3p; MSX2; NKX2 5; NSD1; Trisomy 5q

Indexed keywords

AORTA COARCTATION; ARTICLE; BODY HEIGHT; BODY WEIGHT; BRACHYCEPHALY; CASE REPORT; CHILD; CHROMOSOME 3P; CHROMOSOME 3Q; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL HEART MALFORMATION; CRANIOFACIAL MALFORMATION; DNA MICROARRAY; FEMALE; GENETIC ASSOCIATION; HEAD CIRCUMFERENCE; HEART ATRIUM SEPTUM DEFECT; HUMAN; HYPERTELORISM; INFANT; KARYOTYPE 46,XX; MICROCEPHALY; PARTIAL MONOSOMY; PARTIAL MONOSOMY 3P; PARTIAL TRISOMY; PARTIAL TRISOMY 5Q; PATENT DUCTUS ARTERIOSUS; PRESCHOOL CHILD; PSYCHOMOTOR RETARDATION; PULMONARY ARTERY STENOSIS; SHORT STATURE;

ABNORMALITIES, MULTIPLE; AORTIC COARCTATION; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 3; CHROMOSOMES, HUMAN, PAIR 5; CRI-DU-CHAT SYNDROME; DEVELOPMENTAL DISABILITIES; DWARFISM; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION; INFANT; MICROCEPHALY; TRISOMY;

EID: 84867308086     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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