ISSN:
1435-232X
Quelle:
Springer Online Journal Archives 1860-2000
Thema:
Biologie
,
Medizin
Notizen:
Summary A malformed male infant showed a mosaic trisomy 14 with a karyotype of mos 46,XY/46,XY,−14,+i(14q). The mosaicism was found both in peripheral blood cultures and in lymphoblastoid cells transformed by EB virus infection. His clinical picture was compared with those of 5 previously reported cases of trisomy 14 mosaicism, and the following common phenotypic features were noted: growth retardation, psychomotor delay, narrow or asymmetrical palpebral fissures, broad nose, low-set and dysplastic ears, high-arched palate, micrognathia, short neck, congenital heart disease, and undescended testes.
Materialart:
Digitale Medien
URL:
http://dx.doi.org/10.1007/BF01876761
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