Syrrou M, Borghgraef M, Fryns J P
Center for Human Genetics, University of Leuven, Herestraat 49, B-3000 Leuven, Belgium.
Am J Med Genet. 2001 Dec 1;104(3):199-203.
We report on the unusual cytogenetic findings in a girl with moderate mental retardation and a mosaic karyotype 46,XX,del(4)(p16)/46,XX,der(4)(qter-q31.3::pter-qter). The facial features observed in the child initially did not suggest the diagnosis of Wolf-Hirschhorn syndrome (WHS), but the distinct facial gestalt became obvious at prepubertal age. Fluorescence in situ hybridization (FISH) analysis with different probes that map to 4p and 4q helped to clarify the karyotype. We discuss the mechanism of appearance of this unusual type of mosaicism, which has not been reported before.
我们报告了一名中度智力发育迟缓女孩的异常细胞遗传学发现，其核型为嵌合体46,XX,del(4)(p16)/46,XX,der(4)(qter-q31.3::pter-qter)。该患儿最初观察到的面部特征并不提示Wolf-Hirschhorn综合征（WHS）的诊断，但在青春期前明显出现了典型的面部特征。使用定位到4p和4q的不同探针进行荧光原位杂交（FISH）分析有助于明确核型。我们讨论了这种以前未报道过的异常类型嵌合体出现的机制。
