A 4 Mb cryptic deletion associated with inv(8)(q13.1q24.11) in a patient with trichorhinophalangeal syndrome type I

Journal of Medical Genetics

Volumn 34, Issue 4, 1997, Pages 335-339

  Sasaki, Tohru ^a   Tonoki, Hidefumi ^b   Soejima, Hidenobu ^a   Niikawa, Norio ^a  

^a NAGASAKI UNIVERSITY   (Japan)

^b HOKKAIDO UNIVERSITY   (Japan)

Author keywords

Cryptic deletion; Inv(8)(q13.1q24.11); Mental retardation; Trichorhinophalangeal syndrome type I

Indexed keywords

ARTICLE; CASE REPORT; CHONDRODYSPLASIA; CHROMOSOME 8; CHROMOSOME 8Q; FEMALE; FINGER; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE SEQUENCE; HUMAN; MALFORMATION SYNDROME; POLYDACTYLY; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 0030927078     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.4.335     Document Type: Article

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