Diagnosis of chromosomal anomalies due to adjacent-1 malsegregation resulting from translocation heterozygotes.

Ching Ming Liu; Chun Kai Chen; Shuenn Dyh Chang

Diagnosis of chromosomal anomalies due to adjacent-1 malsegregation resulting from translocation heterozygotes.

Ching Ming Liu^*
, Chun Kai Chen
, Shuenn Dyh Chang

^*Corresponding author for this work

Chang Gung Memorial Hospital

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

Abstract

Patients who are carriers of reciprocal translocations may have pregnancies with unbalanced karyotypes that result in miscarriage or congenital anomalies of offspring. We report 3 cases of unbalanced karyotype resulting from adjacent-1 malsegregation in the conceptuses of heterozygous carriers of balanced translocations. The combined use of genetic markers in ultrasound, chromosomal analysis and fluorescence in situ hybridization to make accurate prenatal diagnosis is described.

Original language	English
Pages (from-to)	952-956
Number of pages	5
Journal	Journal of the Formosan Medical Association
Volume	103
Issue number	12
State	Published - 12 2004
Externally published	Yes

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This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Cite this

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title = "Diagnosis of chromosomal anomalies due to adjacent-1 malsegregation resulting from translocation heterozygotes.",

abstract = "Patients who are carriers of reciprocal translocations may have pregnancies with unbalanced karyotypes that result in miscarriage or congenital anomalies of offspring. We report 3 cases of unbalanced karyotype resulting from adjacent-1 malsegregation in the conceptuses of heterozygous carriers of balanced translocations. The combined use of genetic markers in ultrasound, chromosomal analysis and fluorescence in situ hybridization to make accurate prenatal diagnosis is described.",

author = "Liu, \{Ching Ming\} and Chen, \{Chun Kai\} and Chang, \{Shuenn Dyh\}",

year = "2004",

month = dec,

language = "英语",

volume = "103",

pages = "952--956",

journal = "Journal of the Formosan Medical Association",

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publisher = "Elsevier B.V.",

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T1 - Diagnosis of chromosomal anomalies due to adjacent-1 malsegregation resulting from translocation heterozygotes.

AU - Liu, Ching Ming

AU - Chen, Chun Kai

AU - Chang, Shuenn Dyh

PY - 2004/12

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N2 - Patients who are carriers of reciprocal translocations may have pregnancies with unbalanced karyotypes that result in miscarriage or congenital anomalies of offspring. We report 3 cases of unbalanced karyotype resulting from adjacent-1 malsegregation in the conceptuses of heterozygous carriers of balanced translocations. The combined use of genetic markers in ultrasound, chromosomal analysis and fluorescence in situ hybridization to make accurate prenatal diagnosis is described.

AB - Patients who are carriers of reciprocal translocations may have pregnancies with unbalanced karyotypes that result in miscarriage or congenital anomalies of offspring. We report 3 cases of unbalanced karyotype resulting from adjacent-1 malsegregation in the conceptuses of heterozygous carriers of balanced translocations. The combined use of genetic markers in ultrasound, chromosomal analysis and fluorescence in situ hybridization to make accurate prenatal diagnosis is described.

UR - https://www.scopus.com/pages/publications/16644383164

M3 - 文章

C2 - 15624048

AN - SCOPUS:16644383164

SN - 0929-6646

VL - 103

SP - 952

EP - 956

JO - Journal of the Formosan Medical Association

JF - Journal of the Formosan Medical Association

IS - 12

ER -

Diagnosis of chromosomal anomalies due to adjacent-1 malsegregation resulting from translocation heterozygotes.

Abstract

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