Discordant prenatal phenotype and karyotype of monozygotic twins characterized lay the unequal distribution of two cell lines investigated by different methods: A review

被引：14

作者：

Gentilin, Barbara ^{[1
]}

Guerneri, Silvana ^{[2
]}

Bianchi, Vera ^{[1
]}

Natacci, Federica ^{[1
]}

Colombo, Augusto ^{[3
]}

Fogliani, Roberto ^{[3
]}

Fortuna, Renato ^{[2
]}

Coviello, Domenico A. ^{[2
]}

Curcio, Cristina ^{[2
]}

Lalatta, Faustina ^{[1
]}

机构：

[1] Fdn Osped Maggiore Policlin Mangiagalli & Regina, Dipartimento Salute Donna Bambino & Neonato, Clin Genet Unit, I-20122 Milan, Italy

[2] Fdn Osped Maggiore Policlin Mangiagalli & Regina, Dipartimento Serv, Med Genet Lab, I-20122 Milan, Italy

[3] Fdn Osped Maggiore Policlin Mangiagalli & Regina, Obstet & Gynecol Unit 2, Dipartimento Salute Donna Bambino & Neonato, I-20122 Milan, Italy

来源：

TWIN RESEARCH AND HUMAN GENETICS | 2008年 / 11卷 / 03期

关键词：

D O I：

10.1375/twin.11.3.352

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We present the case of a monozygotic twin pregnancy discordant for phenotype and karyotype. A chorionic villus sample was performed at the 11th week of gestation in a primigravida because of cystic hygroma detected by ultrasound in one twin of a monochorionic, biamniotic pregnancy. Rapid testing by means of quantitative fluorescence polymerase chain reaction and conventional karyotyping, obtained by both short- and long-term culture, revealed a homogeneous monosomy X (45,X). Amniocentesis was performed separately for both twins before termination and showed an homogeneous monosomy X in one sample and a 46,X,del(X)(p11.1) karyotype in the other one. Postmortem fetal tissues culture confirmed the discordant karyotype between the two embryos. Placental samples obtained after termination revealed the cell line which was not detected at chorionic villus sampling. Based on this and previous reports, we suggest that in cases of a phenotypic discordance detected at ultrasound in the first trimester, it is advisable to perform a karyotype analysis on amniocytes because it better reflects fetal constitution rather than chorionic villi or lymphocytes in case of heterokaryotipic monosomy X monochorionic twins.

引用

页码：352 / 356

页数：5

共 23 条

[1] Monozygotic twins concordant for blood karyotype, but phenotypically discordant: A case of "Mosaic chimerism" [J].