Monochorionic twins discordant for mosaic trisomy 14

Mai He; John R. Pepperell; Fusun Gundogan; Monique E. De Paepe; Lindsay Maggio; Shaolei Lu; Stefan Kostadinov; Barbara O'Brien; Suzanne Delamonte; Halit Pinar; Umadevi Tantravahi

doi:10.1002/ajmg.a.36407

Monochorionic twins discordant for mosaic trisomy 14

Mai He, John R. Pepperell, Fusun Gundogan, Monique E. De Paepe, Lindsay Maggio, Shaolei Lu, Stefan Kostadinov, Barbara O'Brien, Suzanne Delamonte, Halit Pinar, Umadevi Tantravahi

Research output: Contribution to journal › Article › peer-review

13 Scopus citations

Abstract

Monochorionic-diamniotic twins are usually monozygotic twins and known to be associated with adverse obstetric and perinatal outcomes. Cases of discordant karyotype of monozygotic twins are rare and most involves sex chromosomes. We present the first case of monochorionic twins with discordant karyotype manifested as mosaic trisomy 14 in one twin (B) and a normal karyotype in the other (A). We describe the postmortem pathological and imaging findings of the trisomic twin and for the first time neuropathological findings of this entity. Metaphase chromosome analysis of twin B using fetal tissue showed a 47, XX, +14 karyotype. Chromosomal microarray analysis (CMA) using fetal tissue revealed 38% mosaicism. CMA with placental tissue from both sides demonstrated normal karyotype and confirmed monozygosity, highlighting the value of array based testing on diagnosing mosaicism and zygosity.

Original language	English
Pages (from-to)	1227-1233
Number of pages	7
Journal	American Journal of Medical Genetics, Part A
Volume	164
Issue number	5
DOIs	https://doi.org/10.1002/ajmg.a.36407
State	Published - May 2014

Keywords

Autopsy
Discordant karyotype
Monchorionic twin
Mosaic trisomy 14
Pathology

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title = "Monochorionic twins discordant for mosaic trisomy 14",

abstract = "Monochorionic-diamniotic twins are usually monozygotic twins and known to be associated with adverse obstetric and perinatal outcomes. Cases of discordant karyotype of monozygotic twins are rare and most involves sex chromosomes. We present the first case of monochorionic twins with discordant karyotype manifested as mosaic trisomy 14 in one twin (B) and a normal karyotype in the other (A). We describe the postmortem pathological and imaging findings of the trisomic twin and for the first time neuropathological findings of this entity. Metaphase chromosome analysis of twin B using fetal tissue showed a 47, XX, +14 karyotype. Chromosomal microarray analysis (CMA) using fetal tissue revealed 38% mosaicism. CMA with placental tissue from both sides demonstrated normal karyotype and confirmed monozygosity, highlighting the value of array based testing on diagnosing mosaicism and zygosity.",

keywords = "Autopsy, Discordant karyotype, Monchorionic twin, Mosaic trisomy 14, Pathology",

author = "Mai He and Pepperell, {John R.} and Fusun Gundogan and {De Paepe}, {Monique E.} and Lindsay Maggio and Shaolei Lu and Stefan Kostadinov and Barbara O'Brien and Suzanne Delamonte and Halit Pinar and Umadevi Tantravahi",

year = "2014",

month = may,

doi = "10.1002/ajmg.a.36407",

language = "English",

volume = "164",

pages = "1227--1233",

journal = "American Journal of Medical Genetics, Part A",

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T1 - Monochorionic twins discordant for mosaic trisomy 14

AU - He, Mai

AU - Pepperell, John R.

AU - Gundogan, Fusun

AU - De Paepe, Monique E.

AU - Maggio, Lindsay

AU - Lu, Shaolei

AU - Kostadinov, Stefan

AU - O'Brien, Barbara

AU - Delamonte, Suzanne

AU - Pinar, Halit

AU - Tantravahi, Umadevi

PY - 2014/5

Y1 - 2014/5

N2 - Monochorionic-diamniotic twins are usually monozygotic twins and known to be associated with adverse obstetric and perinatal outcomes. Cases of discordant karyotype of monozygotic twins are rare and most involves sex chromosomes. We present the first case of monochorionic twins with discordant karyotype manifested as mosaic trisomy 14 in one twin (B) and a normal karyotype in the other (A). We describe the postmortem pathological and imaging findings of the trisomic twin and for the first time neuropathological findings of this entity. Metaphase chromosome analysis of twin B using fetal tissue showed a 47, XX, +14 karyotype. Chromosomal microarray analysis (CMA) using fetal tissue revealed 38% mosaicism. CMA with placental tissue from both sides demonstrated normal karyotype and confirmed monozygosity, highlighting the value of array based testing on diagnosing mosaicism and zygosity.

AB - Monochorionic-diamniotic twins are usually monozygotic twins and known to be associated with adverse obstetric and perinatal outcomes. Cases of discordant karyotype of monozygotic twins are rare and most involves sex chromosomes. We present the first case of monochorionic twins with discordant karyotype manifested as mosaic trisomy 14 in one twin (B) and a normal karyotype in the other (A). We describe the postmortem pathological and imaging findings of the trisomic twin and for the first time neuropathological findings of this entity. Metaphase chromosome analysis of twin B using fetal tissue showed a 47, XX, +14 karyotype. Chromosomal microarray analysis (CMA) using fetal tissue revealed 38% mosaicism. CMA with placental tissue from both sides demonstrated normal karyotype and confirmed monozygosity, highlighting the value of array based testing on diagnosing mosaicism and zygosity.

KW - Autopsy

KW - Discordant karyotype

KW - Monchorionic twin

KW - Mosaic trisomy 14

KW - Pathology

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U2 - 10.1002/ajmg.a.36407

DO - 10.1002/ajmg.a.36407

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AN - SCOPUS:84898887736

SN - 1552-4825

VL - 164

SP - 1227

EP - 1233

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 5

ER -

Monochorionic twins discordant for mosaic trisomy 14

Abstract

Keywords

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