Τίτλος:
Trisomy 3 mosaicism in a live-born infant
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
We report on the first case of trisomy 3 detected in the lymphocytes of a live-born infant who died at the age of 5 months. A normal 46,XX karyotype was found in skin fibroblast cultures, which could account for the child's viability and lack of gross phenotypic malformations.
Συγγραφείς:
Metaxotou, C.
Tsenghi, C.
Bitzos, I.
Strataki-Benetou, M.
Kalpini-Mavrou, A.
Matsaniotis, N.
Περιοδικό:
Application of Clinical Genetics
Λέξεις-κλειδιά:
autosome mosaicism; case report; congenital disorder; diagnosis; electron microscopy; etiology; heredity; histology; infant; mental retardation malformation syndrome; trisomy 3
DOI:
10.1111/j.1399-0004.1981.tb00664.x
