Cri-du-chat (5p-) syndrome presenting with cerebellar hypoplasia and hypospadias: Prenatal diagnosis and aCGH characterization using uncultured amniocytes

Gene

Volumn 524, Issue 2, 2013, Pages 407-411

  Chen, Chih Ping ^a,b,c,d,e   Huang, Ming Chao ^a   Chen, Yi Yung ^a   Chern, Schu Rern ^a   Wu, Peih Shan ^f   Su, Jun Wei ^a,g   Town, Dai Dyi ^a   Wang, Wayseen ^a,h  

^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 GENE BIODESIGN CO LTD   (Taiwan)

^g CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^h TATUNG UNIVERSITY   (Taiwan)

Author keywords

5p deletion; Cerebellar hypoplasia; Cri du chat syndrome; Hypospadias; SRD5A1; TPPP

Indexed keywords

ADULT; AMNION CELL; ARTICLE; CASE REPORT; CAT CRY SYNDROME; CEREBELLUM HYPOPLASIA; CHROMOSOME 5P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; FETUS DISEASE; GENETIC COUNSELING; GENOTYPE PHENOTYPE CORRELATION; GESTATIONAL AGE; HAPLOINSUFFICIENCY; HUMAN; HUMAN CELL; HYPOSPADIAS; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

3-OXO-5-ALPHA-STEROID 4-DEHYDROGENASE; ABORTION, INDUCED; AMNIOCENTESIS; CELLS, CULTURED; CEREBELLUM; CHROMOSOMES, HUMAN, PAIR 5; COMPARATIVE GENOMIC HYBRIDIZATION; CRI-DU-CHAT SYNDROME; DEVELOPMENTAL DISABILITIES; FEMALE; GENETIC ASSOCIATION STUDIES; HAPLOINSUFFICIENCY; HUMANS; HYPOSPADIAS; MALE; MEMBRANE PROTEINS; NERVE TISSUE PROTEINS; NERVOUS SYSTEM MALFORMATIONS; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 84878667522     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.03.003     Document Type: Article

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