Prenatal diagnosis and long-term follow-up of a Chinese patient with mosaic variegated aneuploidy and its molecular analysis

S.M. Lin; H.M. Luk; I.F.M. Lo; W.-K. Tam; K.Y.K. Chan; H.-Y. Tse; W.C. Leung; M.H.Y. Tang; A.S.Y. Kan

doi:10.1002/ccr3.2802

Prenatal diagnosis and long-term follow-up of a Chinese patient with mosaic variegated aneuploidy and its molecular analysis

S.M. Lin
, H.M. Luk
, I.F.M. Lo
, W.-K. Tam
, K.Y.K. Chan
, H.-Y. Tse
, W.C. Leung
, M.H.Y. Tang
, A.S.Y. Kan

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

5 Citations (Scopus)

Abstract

Mosaic variegated aneuploidy (MVA) is a rare genetic disorder caused by mutations in BUB1B, CEP57, or TRIP13. We describe the prenatal diagnosis, molecular characterization, and clinical management of a long-lived patient with BUB1B-related MVA.

Original language	English
Journal	Clinical Case Reports
Volume	8
Issue number	8
DOIs	https://doi.org/10.1002/ccr3.2802
Publication status	Published - 2020
Externally published	Yes

Keywords

molecular diagnosis
mosaic variegated aneuploidy
prenatal diagnosis

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10.1002/ccr3.2802

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title = "Prenatal diagnosis and long-term follow-up of a Chinese patient with mosaic variegated aneuploidy and its molecular analysis",

abstract = "Mosaic variegated aneuploidy (MVA) is a rare genetic disorder caused by mutations in BUB1B, CEP57, or TRIP13. We describe the prenatal diagnosis, molecular characterization, and clinical management of a long-lived patient with BUB1B-related MVA.",

keywords = "molecular diagnosis, mosaic variegated aneuploidy, prenatal diagnosis",

author = "S.M. Lin and H.M. Luk and I.F.M. Lo and W.-K. Tam and K.Y.K. Chan and H.-Y. Tse and W.C. Leung and M.H.Y. Tang and A.S.Y. Kan",

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language = "English",

volume = "8",

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TY - JOUR

T1 - Prenatal diagnosis and long-term follow-up of a Chinese patient with mosaic variegated aneuploidy and its molecular analysis

AU - Lin, S.M.

AU - Luk, H.M.

AU - Lo, I.F.M.

AU - Tam, W.-K.

AU - Chan, K.Y.K.

AU - Tse, H.-Y.

AU - Leung, W.C.

AU - Tang, M.H.Y.

AU - Kan, A.S.Y.

PY - 2020

Y1 - 2020

N2 - Mosaic variegated aneuploidy (MVA) is a rare genetic disorder caused by mutations in BUB1B, CEP57, or TRIP13. We describe the prenatal diagnosis, molecular characterization, and clinical management of a long-lived patient with BUB1B-related MVA.

AB - Mosaic variegated aneuploidy (MVA) is a rare genetic disorder caused by mutations in BUB1B, CEP57, or TRIP13. We describe the prenatal diagnosis, molecular characterization, and clinical management of a long-lived patient with BUB1B-related MVA.

KW - molecular diagnosis

KW - mosaic variegated aneuploidy

KW - prenatal diagnosis

U2 - 10.1002/ccr3.2802

DO - 10.1002/ccr3.2802

M3 - Article

VL - 8

JO - Clinical Case Reports

JF - Clinical Case Reports

IS - 8

ER -

Prenatal diagnosis and long-term follow-up of a Chinese patient with mosaic variegated aneuploidy and its molecular analysis

Abstract

Keywords

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