Sarri C, Gyftodimou Y, Grigoriadou M, Pandelia E, Kalogirou S, Kokotas H, Mrasek K, Weise A, Petersen M B
Genetics Department, Institute of Child Health, Aghia Sophia Children's Hospital, Athens, Greece.
Cytogenet Genome Res. 2006;114(3-4):330-7. doi: 10.1159/000094222.
We describe a female patient with a small supernumerary marker chromosome (sSMC) present in mosaic and characterized in detail by fluorescence in situ hybridization (FISH) using all 24 human whole chromosome painting probes, multicolor banding (MCB) and subcentromere specific multicolor FISH (subcenM-FISH). The sSMC was demonstrated to be derived from chromosome 5 and the karyotype of our patient was as follows: 47,XX,+mar.ish r(5)(::p13.2 approximately p13.3-->q11.2::) [60%]/46,XX [40%]. Partial trisomy for the proximal 5p and q chromosomal regions is a rare event. A critical region exists at 5p13 for the phenotype associated with duplication 5p. As far as we know, eight similar cases have been published up to now. We describe a new case which, to our knowledge, is the first characterized in such detail. The role of uniparental disomy (UPD) in cases of SMC is also discussed.
我们描述了一名患有小额外标记染色体（sSMC）的女性患者，该染色体呈嵌合状态，并使用所有24种人类全染色体涂染探针、多色带（MCB）和着丝粒特异性多色荧光原位杂交（subcenM-FISH）进行了详细表征。结果表明，该sSMC源自5号染色体，患者的核型如下：47,XX,+mar.ish r(5)(::p13.2约p13.3→q11.2::) [60%]/46,XX [40%]。5号染色体短臂近端和长臂染色体区域的部分三体是一种罕见情况。5p13存在一个与5p重复相关表型的关键区域。据我们所知，迄今为止已发表了8例类似病例。我们描述了一个新病例，据我们所知，这是首个如此详细表征的病例。本文还讨论了单亲二体（UPD）在SMC病例中的作用。
