A case of duplication of 13q32→qter and deletion of 18p11.32→pter with mild phenotype: Patau syndrome and duplications of 13q revisited

Journal of Medical Genetics

Volumn 33, Issue 7, 1996, Pages 600-602

  Helali, Nasser ^a   Iafolla, A Kimberly ^a   Kahler, Stephen G ^a   Qumsiyeh, Mazin B ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Patau syndrome; Phenotype karyotype correlation; Trisomy 13

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 13Q; CHROMOSOME 18P; CHROMOSOME DUPLICATION; EXTERNAL EAR MALFORMATION; FACE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE EXPRESSION; HEMANGIOMA; HERNIA; HUMAN; KARYOTYPE 46,XY; MALE; PATAU SYNDROME; PHENOTYPE; POLYDACTYLY; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SCHOOL CHILD; TRISOMY 13; UROGENITAL TRACT MALFORMATION;

EID: 0030037795     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.7.600     Document Type: Article

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