Pipiras E, Dupont C, Chantot-Bastaraud S, Siffroi J P, Bucourt M, Batallan A, Largillière C, Uzan M, Wolf J P, Benzacken B
Service d'Histologie Embryologie Cytogénétique BDR, Hôpital Jean Verdier, Bondy, France.
Prenat Diagn. 2004 Feb;24(2):101-3. doi: 10.1002/pd.797.
True structural chromosomal mosaicism are rare events in prenatal cytogenetics practice and may lead to diagnostic and prognostic problems. Here is described the case of a fetus carrying an abnormal chromosome 15 made of a whole chromosome 2p translocated on its short arm in 10% of the cells, in association with a normal cell line. The fetal karyotype was 46,XX,add(15)(p10).ish t(2;15)(p10;q10)(WCP2+)[3]/46,XX[27]. Pregnancy was terminated and fetus examination revealed a growth retardation associated with a dysmorphism including dolichocephaly, hypertelorism, high forehead, low-set ears with prominent anthelix and a small nose, which were characteristic of partial trisomy 2p. Possible aetiologies for prenatal mosaicism involving a chromosomal structural abnormality are discussed.
真正的结构性染色体嵌合体在产前细胞遗传学实践中是罕见事件，可能会导致诊断和预后问题。本文描述了一例胎儿病例，其15号染色体异常，10%的细胞中2号染色体短臂整条易位到15号染色体短臂上，同时伴有正常细胞系。胎儿核型为46,XX,add(15)(p10)。ish t(2;15)(p10;q10)(WCP2+)[3]/46,XX[27]。妊娠终止，胎儿检查显示生长发育迟缓，并伴有畸形，包括长头畸形、眼距增宽、前额高、耳低位且耳轮突出以及鼻小，这些都是2号染色体短臂部分三体的特征。文中讨论了涉及染色体结构异常的产前嵌合体的可能病因。
