Monozygotic twins discordant for trisomy 13

被引：16

作者：

Ramsey, K. Wong ^{[1
]}

Slavin, T. P. ^{[1
,2
]}

Graham, G. ^{[3
]}

Hirata, G. I. ^{[4
]}

Balaraman, V. ^{[1
,2
]}

Seaver, L. H. ^{[1
,2
]}

机构：

[1] Univ Hawaii, John A Burns Sch Med, Dept Pediat, Honolulu, HI 96826 USA

[2] Kapiolani Med Specialists, Honolulu, HI USA

[3] Univ Hawaii, John A Burns Sch Med, Dept Obstet & Gynecol, Honolulu, HI 96826 USA

[4] Fetal Diagnost Inst Pacific, Honolulu, HI USA

来源：

JOURNAL OF PERINATOLOGY | 2012年 / 32卷 / 04期

关键词：

trisomy; 13; heterokaryotypic pregnancy; discordant twins; chromosomal mosaicism; chimerism; trisomy rescue; KARYOTYPES; ISODISOMY;

D O I：

10.1038/jp.2011.123

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Monozygotic twins with discordant karyotypes are rare. We report a case of monozygotic twins discordant for trisomy 13 by amniocyte karyotypes. Ultrasound revealed multiple congenital anomalies in Twin A (47,XY, + 13), none in Twin B (46,XY), and monochorionic-diamniotic placentation. Zygosity testing performed both prenatally and after birth supported monozygosity. Twin A died in the neontal period. Twin B survived and had normal physical examination, but peripheral blood karyotype revealed 20% mosaicism for trisomy 13. Monochorionic-diamniontic placentation with vascular anastomoses was confirmed by pathological examination. In this paper, we discuss the various mechanisms by which monozygotic twins may have discordant karyotypes. The surviving twin, structurally and developmentally normal at 6 months of age, will be monitored for potential complications of uniparental disomy of chromosome 13 and trisomy 13 mosaicism. Journal of Perinatology (2012) 32, 306-308; doi:10.1038/jp.2011.123

引用

页码：306 / 308

页数：3

共 18 条

[1]

Berend SA, 1999, AM J MED GENET, V82, P275, DOI 10.1002/(SICI)1096-8628(19990129)82:3<275::AID-AJMG15>3.0.CO

[2]

2-2

[3] Monozygotic twins discordant for monosomy 21 detected by first-trimester nuchal translucency screening [J].

Cheng, Po-Jen ;

Shaw, Sheng-Wen ;

Shih, Jin-Chung ;

Soong, Yung-Kuei .

OBSTETRICS AND GYNECOLOGY, 2006, 107 (02) :538-541

[4] Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance:: A complex series of events [J].

Dahoun, Sophie ;

Gagos, Sarantis ;

Gagnebin, Maryline ;

Gehrig, Corinne ;

Burgi, Carole ;

Simon, Fabienne ;

Vieux, Chantal ;

Extermann, Philippe ;

Lyle, Robert ;

Morris, Michael A. ;

Antonarakis, Stylianos E. ;

Bena, Frederique ;

Blouin, Jean-Louis .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2008, 146A (16) :2086-2093

[5] Phenotypic Variability in Trisomy 13 Mosaicism: Two New Patients and Literature Review [J].

Griffith, Christopher B. ;

Vance, Gail H. ;

Weaver, David D. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (06) :1346-1358

[6]

Järvelä I, 1998, PRENATAL DIAG, V18, P1169

[7] Non-identical Monozygotic Twins, Intermediate Twin Types, Zygosity Testing, and the Non-Random Nature of Monozygotic Twinning [J].

Machin, Geoffrey .

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2009, 151C (02) :110-127

[8]

Nieuwint A, 1999, PRENATAL DIAG, V19, P72, DOI 10.1002/(SICI)1097-0223(199901)19:1<72::AID-PD465>3.0.CO

[9]

2-V

[10] Monozygotic twins with discordant karyotypes: A case report [J].

O'Donnell, CPF ;

Pertile, MD ;

Sheffield, LJ ;

Sampson, A .

JOURNAL OF PEDIATRICS, 2004, 145 (03) :406-408

← 1 2 →