Sex-reversed XY females with campomelic dysplasia are H-Y negative

Three families with infants affected with campomelic dysplasia, a genetically determined mesenchymal disease frequently associated with sex reversal were studied. Two XY females with ovarian gonadal differentiation and typical clinical features of campomelic dysplasia could be tested for H-Y antigen...

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Veröffentlicht in:	Human genetics 1981-01, Vol.57 (1), p.15-22
Hauptverfasser:	Bricarelli, F D, Fraccaro, M, Lindsten, J, Müller, U, Baggio, P, Carbone, L D, Hjerpe, A, Lindgren, F, Mayerová, A, Ringertz, H, Ritzén, E M, Rovetta, D C, Sicchero, C, Wolf, U
Format:	Artikel
Sprache:	eng
Schlagworte:	Bone and Bones - diagnostic imaging Bone and Bones - pathology Child, Preschool Disorders of Sex Development Female H-Y Antigen - genetics Humans Infant Karyotyping Male Osteochondritis - diagnostic imaging Osteochondritis - genetics Phenotype Radiography
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Zusammenfassung:	Three families with infants affected with campomelic dysplasia, a genetically determined mesenchymal disease frequently associated with sex reversal were studied. Two XY females with ovarian gonadal differentiation and typical clinical features of campomelic dysplasia could be tested for H-Y antigen and were found to be H-Y negative.
ISSN:	0340-6717 1432-1203
DOI:	10.1007/BF00271160