Chimerism involving aRB1pathogenic variant in monochorionic dizygotic twins with twin-twin transfusion syndrome

被引：4

作者：

Armitage, Anna M. ^{[1
]}

Kundra, Monica A. ^{[1
]}

Ghiam, Neda ^{[2
]}

Atwal, Paldeep S. ^{[3
]}

Morel, Dayna ^{[4
]}

Hruska, Kathleen S. ^{[5
]}

Torene, Rebecca ^{[5
]}

Forghani, Irman ^{[4
]}

机构：

[1] Univ Miami, Miller Sch Med, Miami, FL USA

[2] Univ Miami, Miller Sch Med, Dr Phillip Frost Dept Dermatol & Cutaneous Surg, Miami, FL 33136 USA

[3] Atwal Clin, Jacksonville, FL USA

[4] Univ Miami, Miller Sch Med, Dept Human Genet, Miami, FL 33136 USA

[5] GeneDx, Gaithersburg, MD USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2021年 / 185卷 / 01期

关键词：

chimerism; monochorionic-dizygotic twins; twin-twin-transfusion syndrome; BLOOD; RETINOBLASTOMA; CELLS;

D O I：

10.1002/ajmg.a.61913

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report the first case of blood chimerism involving a pathogenicRB1variant in naturally conceived monochorionic-dizygotic twins (MC/DZ) with the twin-twin-transfusion syndrome (TTTS), presumably caused by the exchange of stem-cells. Twin A developed bilateral retinoblastoma at 7 months of age. Initial genetic testing identified a de novoRB1pathogenic variant, with a 20% allelic ratio in both twins' blood. Subsequent genotyping of blood and skin confirmed dizygosity, with the affected twin harboring theRB1pathogenic variant in skin and blood, and the unaffected twin carrying the variant only in blood.

引用

页码：208 / 212

页数：5

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