Ullrich-Turner phenotype with unusual manifestation in a patient with mosaicism 45,X/47,XX,+18

American Journal of Medical Genetics

Volumn 62, Issue 1, 1996, Pages 26-28

  Franceschini, Piergiorgio ^a   Guala, Andrea ^a   Camerano, Patrizia ^a   Franceschini, Daniele ^a   Vardeu, Maria Paola ^a   Signorile, Federico ^a  

^a UNIVERSITY OF TURIN   (Italy)

Author keywords

mosaic trisomy 18 syndrome; mosaic Ullrich Turner syndrome; mosaicism 45,X 47,XX,+18

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME MOSAICISM; CYTOGENETICS; FACE ASYMMETRY; FEMALE; HUMAN; HYPERTRICHOSIS; METACARPOPHALANGEAL JOINT; PERIPHERAL LYMPHOCYTE; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SKIN FIBROBLAST; TRISOMY 18; TURNER SYNDROME;

ABNORMALITIES, MULTIPLE; ADULT; ARM; CHILD; CHROMOSOMES, HUMAN, PAIR 18; DWARFISM; FACE; FEMALE; HUMANS; HYPERTRICHOSIS; MALE; MOSAICISM; PHENOTYPE; X CHROMOSOME;

EID: 0029916969     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960301)62:1<26::AID-AJMG6>3.0.CO;2-U     Document Type: Article

References (13)

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