Partial trisomy 8 mosaicism not detected by cultured amniotic-fluid cells

Meng-Che Tsai, Hsueh Yin Cheng, Mei-Tsz Su, Ming Chen, Pao-Lin Kuo

Research output: Contribution to journalArticle

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Abstract

Objective: Prenatal detection of trisomy 8 mosaicism can be misleading and remains challenging in genetic counseling. Identifying cases of partial or complete trisomy 8 mosaicism will highlight the pitfalls of conventional karyotyping in prenatal amniocentesis for partial or complete trisomy 8 mosaicism. Case report: The patient was born uneventfully at term to a healthy 34-year-old mother. Analysis of the amniotic fluid (AF) cells showed a normal male karyotype. At birth, the newborn presented dysmorphic features, including asymmetric mandibles and ears, anteverted nostrils with a relatively long philtrum, retrognathia, and a clenched hand on the left side. Imaging studies revealed agenesis of the corpus callosum with bilateral colpocephaly, a common arterial trunk bifurcating into the left subclavian and carotid arteries, and bilateral pelviectasis. Cytogenetic analysis of the blood revealed mosaicism of partial trisomy 8: 47,XY,+del(8) (q21.3) [8]/46,XY [12]. Array comparative genomic hybridization (array-CGH) revealed 82.9Mb duplications at chromosome 8p23.3-8q21.3 with dosage variations. Interphase fluorescence in situ hybridization analysis of urine sediments and buccal smears were compatible with mosaic compositions. A small colony of AF cells was found to have partial trisomy 8 in repeated analysis. Conclusion: Conventional karyotyping through amniocentesis has limitations particularly in detecting rare trisomy mosaicism if trisomic cells show growth disadvantage. Array-CGH using uncultured cells may be of help in providing more information on genetic dosage variations in such cases.

Original languageEnglish
Pages (from-to)598-601
Number of pages4
JournalTaiwanese Journal of Obstetrics and Gynecology
Volume53
Issue number4
DOIs
Publication statusPublished - 2014 Dec 1

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Amniotic Fluid
Karyotyping
Mosaicism
Amniocentesis
Retrognathia
Chromosome Duplication
Agenesis of Corpus Callosum
Subclavian Artery
Comparative Genomic Hybridization
Cheek
Cytogenetic Analysis
Trisomy
Interphase
Genetic Counseling
Lip
Fluorescence In Situ Hybridization
Karyotype
Mandible
Carotid Arteries
Ear

All Science Journal Classification (ASJC) codes

  • Obstetrics and Gynaecology

Cite this

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title = "Partial trisomy 8 mosaicism not detected by cultured amniotic-fluid cells",
abstract = "Objective: Prenatal detection of trisomy 8 mosaicism can be misleading and remains challenging in genetic counseling. Identifying cases of partial or complete trisomy 8 mosaicism will highlight the pitfalls of conventional karyotyping in prenatal amniocentesis for partial or complete trisomy 8 mosaicism. Case report: The patient was born uneventfully at term to a healthy 34-year-old mother. Analysis of the amniotic fluid (AF) cells showed a normal male karyotype. At birth, the newborn presented dysmorphic features, including asymmetric mandibles and ears, anteverted nostrils with a relatively long philtrum, retrognathia, and a clenched hand on the left side. Imaging studies revealed agenesis of the corpus callosum with bilateral colpocephaly, a common arterial trunk bifurcating into the left subclavian and carotid arteries, and bilateral pelviectasis. Cytogenetic analysis of the blood revealed mosaicism of partial trisomy 8: 47,XY,+del(8) (q21.3) [8]/46,XY [12]. Array comparative genomic hybridization (array-CGH) revealed 82.9Mb duplications at chromosome 8p23.3-8q21.3 with dosage variations. Interphase fluorescence in situ hybridization analysis of urine sediments and buccal smears were compatible with mosaic compositions. A small colony of AF cells was found to have partial trisomy 8 in repeated analysis. Conclusion: Conventional karyotyping through amniocentesis has limitations particularly in detecting rare trisomy mosaicism if trisomic cells show growth disadvantage. Array-CGH using uncultured cells may be of help in providing more information on genetic dosage variations in such cases.",
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Partial trisomy 8 mosaicism not detected by cultured amniotic-fluid cells. / Tsai, Meng-Che; Cheng, Hsueh Yin; Su, Mei-Tsz; Chen, Ming; Kuo, Pao-Lin.

In: Taiwanese Journal of Obstetrics and Gynecology, Vol. 53, No. 4, 01.12.2014, p. 598-601.

Research output: Contribution to journalArticle

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