Molecular Support for Heterogonesis Resulting in Sesquizygotic Twinning

被引：32

作者：

Gabbett, Michael T. ^{[1
,2
,3
,6
,10
]}

Laporte, Johanna ^{[3
,7
]}

Sekar, Renuka ^{[3
,7
]}

Nandini, Adayapalam ^{[8
]}

McGrath, Pauline ^{[6
]}

Sapkota, Yadav ^{[9
]}

Jiang, Peiyong ^{[14
]}

Zhang, Haiqiang ^{[14
]}

Burgess, Trent ^{[11
,12
]}

Montgomery, Grant W. ^{[4
,9
]}

Chiu, Rossa ^{[14
]}

Fisk, Nicholas M. ^{[5
,7
,13
]}

机构：

[1] Queensland Univ Technol, Sch Biomed Sci, Brisbane, Qld, Australia

[2] Queensland Univ Technol, Inst Hlth & Biomed Innovat, Brisbane, Qld, Australia

[3] Univ Queensland, Sch Med, Brisbane, Qld, Australia

[4] Univ Queensland, Inst Mol Biosci, Brisbane, Qld, Australia

[5] Univ Queensland, Clin Res Ctr, Brisbane, Qld, Australia

[6] Royal Brisbane & Womens Hosp, Genet Hlth Queensland, Brisbane, Qld, Australia

[7] Royal Brisbane & Womens Hosp, Ctr Adv Prenatal Care, Brisbane, Qld, Australia

[8] Royal Brisbane & Womens Hosp, Dept Cytogenet, Brisbane, Qld, Australia

[9] QIMR Berghofer Med Res Inst, Brisbane, Qld, Australia

[10] Griffith Univ, Sch Med, Gold Coast, Qld, Australia

[11] Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Vic, Australia

[12] Univ Melbourne, Dept Pediat, Royal Childrens Hosp, Parkville, Vic, Australia

[13] Univ New South Wales, Fac Med, Sydney, NSW, Australia

[14] Chinese Univ Hong Kong, Li Ka Shing Inst Hlth Sci, Dept Chem Pathol, Hong Kong, Peoples R China

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 2019年 / 380卷 / 09期

关键词：

DISPERMIC CHIMERISM; MECHANISMS; DERIVATION; MOSAICISM; ZYGOTES; CELLS; DNA;

D O I：

10.1056/NEJMoa1701313

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Sesquizygotic multiple pregnancy is an exceptional intermediate between monozygotic and dizygotic twinning. We report a monochorionic twin pregnancy with fetal sex discordance. Genotyping of amniotic fluid from each sac showed that the twins were maternally identical but chimerically shared 78% of their paternal genome, which makes them genetically in between monozygotic and dizygotic; they are sesquizygotic. We observed no evidence of sesquizygosis in 968 dizygotic twin pairs whom we screened by means of pangenome single-nucleotide polymorphism genotyping. Data from published repositories also show that sesquizygosis is a rare event. Detailed genotyping implicates chimerism arising at the juncture of zygotic division, termed , as the likely initial step in the causation of sesquizygosis.

引用

页码：842 / 849

页数：8

共 25 条

[11] FetalQuant: deducing fractional fetal DNA concentration from massively parallel sequencing of DNA in maternal plasma [J].

Jiang, Peiyong ;

Chan, K. C. Allen ;

Liao, Gary J. W. ;

Zheng, Yama W. L. ;

Leung, Tak Y. ;

Chiu, Rossa W. K. ;

Lo, Yuk Ming Dennis ;

Sun, Hao .

BIOINFORMATICS, 2012, 28 (22) :2883-2890

[12] The presence of centrioles and centrosomes in ovarian mature cystic teratoma cells suggests human parthenotes developed in vitro can differentiate into mature cells without a sperm centriole [J].

Lee, Bo Yon ;

Shim, Sang Woo ;

Kim, Young Sun ;

Kim, Seung Bo .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2011, 415 (02) :401-404

[13] Diagnosis and management of heterokaryotypic monochorionic twins [J].

Lewi, L ;

Blickstein, I ;

Van Schoubroeck, D ;

Gloning, KP ;

Casteels, M ;

Brandenburg, H ;

Fryns, JP ;

Deprest, J .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (03) :272-275

[14] COMPLETION OF MOUSE EMBRYOGENESIS REQUIRES BOTH THE MATERNAL AND PATERNAL GENOMES [J].

MCGRATH, J ;

SOLTER, D .

CELL, 1984, 37 (01) :179-183

[15] A review of the mechanisms and evidence for typical and atypical twinning [J].

McNamara, Helen C. ;

Kane, Stefan C. ;

Craig, Jeffrey M. ;

Short, Roger V. ;

Umstad, Mark P. .

AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 2016, 214 (02) :172-191

[16] Dispermic chimerism identified during blood group determination and HLA typing [J].

Mosebach, Mira ;

Parkner, Andreas ;

Jakubiczka, Sybille ;

Wieacker, Peter ;

Heim, Marcell U. .

TRANSFUSION, 2006, 46 (11) :1978-1981

[17] Noninvasive Prenatal Determination of Twin Zygosity by Maternal Plasma DNA Analysis [J].

Qu, James Z. Z. ;

Leung, Tak Y. ;

Jiang, Peiyong ;

Liao, Gary J. W. ;

Cheng, Yvonne K. Y. ;

Sun, Hao ;

Chiu, Rossa W. K. ;

Chan, K. C. Allen ;

Lo, Y. M. Dennis .

CLINICAL CHEMISTRY, 2013, 59 (02) :427-435

[18] Patient-specific stem cell lines derived from human parthenogenetic blastocysts [J].

Revazova, E. S. ;

Turovets, N. A. ;

Kochetkova, O. D. ;

Kindarova, L. B. ;

Kuzmichev, L. N. ;

Janus, J. D. ;

Pryzhkova, My. .

CLONING AND STEM CELLS, 2007, 9 (03) :432-449

[19] Derivation and differentiation of haploid human embryonic stem cells [J].

Sagi, Ido ;

Chia, Gloryn ;

Golan-Lev, Tamar ;

Peretz, Mordecai ;

Weissbein, Uri ;

Sui, Lina ;

Sauer, Mark V. ;

Yanuka, Ofra ;

Egli, Dieter ;

Benvenisty, Nissim .

NATURE, 2016, 532 (7597) :107-+

[20] A case of true hermaphroditism reveals an unusual mechanism of twinning [J].

Souter, Vivienne L. ;

Parisi, Melissa A. ;

Nyholt, Dale R. ;

Kapur, Raj P. ;

Henders, Anjali K. ;

Opheim, Kent E. ;

Gunther, Daniel F. ;

Mitchell, Michael E. ;

Glass, Ian A. ;

Montgomery, Grant W. .

HUMAN GENETICS, 2007, 121 (02) :179-185

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