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Trisomy 10 mosaicism in a newborn boy; delineation of the syndrome
Author(s) -
France H. F. de,
Beemer F. A.,
Senders R. Ch.,
SchamineeMain S. C. E.
Publication year - 1985
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1985.tb00190.x
Subject(s) - hypertelorism , trisomy , karyotype , blepharophimosis , failure to thrive , aneuploidy , anatomy , biology , medicine , genetics , pathology , chromosome , ptosis , ophthalmology , gene
The fifth case of trisomy 10 mosaicism is presented. Only in cultured fibroblasts this mosaicism was found, while peripheral lymphocytes revealed a normal karyotype. In comparison with the literature, trisomy 10 mosaicism syndrome is further delineated compromising of failure to thrive, high forehead, hypertelorism, mongoloid eye slant, blepharophimosis, dysplastic, large ears, retrognathia, long slender trunk, marked plantar and palmar furrows, cardiopathy and early death.