C. Boon et al., PARTIAL TRISOMY-10 MOSAICISM WITH CUTANEOUS MANIFESTATIONS - REPORT OF A CASE AND REVIEW OF THE LITERATURE, Clinical genetics, 50(5), 1996, pp. 417-421
A female infant with partial trisomy 10 mosaicism and hypomelanosis of
Ito is presented. Features include a prominent forehead, hyperteloris
m, large dysplastic ears, prominent nasal root, a cleft lip and alveol
ar ridge, bilateral metatarsus adductus, and streaks and whorls of hyp
opigmented skin. The skin findings were diagnostic for hypomelanosis o
f Ito. A peripheral blood karyotype was normal. Fibroblasts from a jun
ctional skin biopsy revealed mosaicism for partial trisomy of chromoso
me 10 [46, XX/47, XX, +del(10) (q11.2q23.2)]. The physical findings of
this patient are compared to five published cases of complete trisomy
10 mosaicism and 94 cases of isolated trisomy 10p and trisomy 10q.