Chromosome 1p32-p31 deletion syndrome: Prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes and association with NFIA haploinsufficiency, ventriculomegaly, corpus callosum hypogenesis, abnormal external genitalia, and intrauterine growth restriction

Taiwanese Journal of Obstetrics and Gynecology

Volumn 50, Issue 3, 2011, Pages 345-352

  Chen, Chih Ping ^a,b,c,d   Su, Yi Ning ^e   Chen, Yi Yung ^a   Chern, Schu Rern ^a   Liu, Yu Peng ^a,f   Wu, Pei Chen ^a   Lee, Chen Chi ^a   Chen, Yu Ting ^a   Wang, Wayseen ^a,g  

^a MACKAY MEMORIAL HOSPITAL   (Taiwan)

^b ASIA UNIVERSITY   (Taiwan)

^c CHINA MEDICAL UNIVERSITY   (Taiwan)

^d NATIONAL YANG MING UNIVERSITY   (Taiwan)

^e NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^f NURSING AND MANAGEMENT COLLEGE   (Taiwan)

^g TATUNG UNIVERSITY   (Taiwan)

Author keywords

Abnormal external genitalia; Chromosome 1p32 p31 deletion syndrome; Corpus callosum hypogenesis; Ventriculomegaly

Indexed keywords

ADULT; AMBIGUOUS GENITALIA; AMNIOCENTESIS; AMNION CELL; ARTICLE; BRAIN VENTRICLE DILATATION; CASE REPORT; CHROMOSOME 1P; CHROMOSOME 1P DELETION SYNDROME; CHROMOSOME DELETION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CORPUS CALLOSUM AGENESIS; CYTOGENETICS; FEMALE; FETUS; FETUS ECHOGRAPHY; GENITAL MALFORMATION; GESTATIONAL AGE; HAPLOINSUFFICIENCY; HUMAN; HYDROCEPHALUS; INTRAUTERINE GROWTH RETARDATION; KARYOTYPING; MACROCEPHALY; MICROGNATHIA; MUTATIONAL ANALYSIS; PRENATAL DIAGNOSIS;

ABNORMALITIES, MULTIPLE; ADULT; AGENESIS OF CORPUS CALLOSUM; AMNIOCENTESIS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 1; COMPARATIVE GENOMIC HYBRIDIZATION; DISORDERS OF SEX DEVELOPMENT; FEMALE; FETAL GROWTH RETARDATION; GENITALIA, FEMALE; HAPLOINSUFFICIENCY; HUMANS; HYDROCEPHALUS; NFI TRANSCRIPTION FACTORS; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 82455218970     PISSN: 10284559     EISSN: 18756263     Source Type: Journal    
DOI: 10.1016/j.tjog.2011.07.014     Document Type: Article

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