Musarella M A, Verma R S
Department of Ophthalmology, The Long Island College Hospital, 339 Hicks Street, NY 11201, Brooklyn, USA.
Ann Genet. 2001 Apr-Jun;44(2):67-70. doi: 10.1016/s0003-3995(01)01074-7.
We report on a case of double aneuploidy involving Down and Turner cell lines in a female child with a massive capillary hemangioma of the left orbit and mild clinical features of Down syndrome. Cytogenetic findings with G-banding revealed mosaicism in her peripheral blood, i.e. mos45,X[48]/47,XX,+21[28]/46,XX[12/47,XXX[12]. Mosaicism of such nature is rare and to our knowledge the present case is the first reported of Turner-Down double aneuploidy mosaicism associated with an orbital capillary hemangioma. An annotated bibliography of earlier reported cases with documented karyotyping is also included.
我们报告了一例患有左眼眶巨大毛细血管瘤且有唐氏综合征轻度临床特征的女童，其存在涉及唐氏和特纳细胞系的双非整倍体情况。G显带细胞遗传学检查结果显示其外周血存在嵌合体，即mos45,X[48]/47,XX,+21[28]/46,XX[12]/47,XXX[12]。这种性质的嵌合体很罕见，据我们所知，本病例是首例报道的与眼眶毛细血管瘤相关的特纳 - 唐氏双非整倍体嵌合体。本文还包括了一份带有已记录核型分析的早期报道病例的注释书目。
