Prenatal diagnosis of recurrent autosomal dominant osteogenesis imperfecta associated with unaffected parents and paternal gonadal mosaicism

Taiwanese Journal of Obstetrics and Gynecology

Volumn 52, Issue 1, 2013, Pages 106-109

  Chen, Chih Ping ^a,b,c,d,e   Lin, Shuan Pei ^a,b,f   Su, Yi Ning ^g   Chern, Schu Rern ^a   Su, Jun Wei ^a,h   Wang, Wayseen ^a,i  

^a MACKAY MEMORIAL HOSPITAL   (Taiwan)

^b MACKAY MEDICAL COLLEGE   (Taiwan)

^c ASIA UNIVERSITY   (Taiwan)

^d CHINA MEDICAL UNIVERSITY   (Taiwan)

^e NATIONAL YANG MING UNIVERSITY   (Taiwan)

^f NURSING AND MANAGEMENT COLLEGE   (Taiwan)

^g TAIPEI MEDICAL UNIVERSITY   (Taiwan)

^h CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

ⁱ TATUNG UNIVERSITY   (Taiwan)

Author keywords

COL1A1; Osteogenesis imperfecta; Prenatal diagnosis; Recurrence

Indexed keywords

ADULT; AMNIOCENTESIS; AMNION CELL; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHROMOSOME ANALYSIS; COL1A1 GENE; FAMILY HISTORY; FEMALE; FETUS ECHOGRAPHY; FRAMESHIFT MUTATION; FRONTAL BOSSING; GENE; GENE INSERTION; GENETIC COUNSELING; GESTATIONAL AGE; HUMAN; KARYOTYPE 46,XX; LEG MALFORMATION; MATERNAL AGE; MOSAICISM; MUTATIONAL ANALYSIS; NONHUMAN; OSTEOGENESIS IMPERFECTA; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; RECURRENT DISEASE; RIB MALFORMATION; SPERM; THORAX MALFORMATION; TIBIA;

ADULT; AMNIOCENTESIS; COLLAGEN TYPE I; DNA MUTATIONAL ANALYSIS; FEMALE; FRAMESHIFT MUTATION; GENETIC MARKERS; GENETIC TESTING; HUMANS; INFANT; MOSAICISM; OSTEOGENESIS IMPERFECTA; PREGNANCY; PRENATAL DIAGNOSIS; ULTRASONOGRAPHY, PRENATAL;

EID: 84878016616     PISSN: 10284559     EISSN: 18756263     Source Type: Journal    
DOI: 10.1016/j.tjog.2013.01.013     Document Type: Article

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