A paternally derived inverted duplication of distal 14q with a terminal 14q deletion

American Journal of Medical Genetics, Part A

Volumn 139 A, Issue 2, 2005, Pages 146-150

  Chen, Chih Ping ^a,b,c   Chern, Schu Rern ^a   Lin, Shuan Pei ^a   Lin, Chyi Chyang ^d   Li, Yueh Chun ^e   Wang, Tzu Hao ^f   Lee, Chen Chi ^a   Pan, Chen Wen ^a   Hsieh, Lie Jiau ^d   Wang, Wayseen ^a  

^a MACKAY MEMORIAL HOSPITAL   (Taiwan)

^b YUANPEI UNIVERSITY   (Taiwan)

^c CHINA MEDICAL UNIVERSITY   (Taiwan)

^d CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^e CHUNG SHAN MEDICAL UNIVERSITY   (Taiwan)

^f CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

Author keywords

Chromosome 14q; Deletion 14q; Inverted duplication 14q; Pyloric stenosis

Indexed keywords

ANAMNESIS; ARTICLE; CASE REPORT; CHROMOSOME 14Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; FEMALE; HEART SURGERY; HUMAN; KARYOTYPE 46,XX; PRIORITY JOURNAL; SCHOOL CHILD; CHROMOSOME 14; CHROMOSOME ABERRATION; GENETICS; GENOME IMPRINTING; KARYOTYPING; MALE; MULTIPLE MALFORMATION SYNDROME; NEWBORN;

ABNORMALITIES, MULTIPLE; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 14; FEMALE; GENOMIC IMPRINTING; HUMANS; INFANT, NEWBORN; KARYOTYPING; MALE;

EID: 33645840170     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.30997     Document Type: Article

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