Prenatal diagnosis and molecular cytogenetic characterization of de novo pure partial trisomy 6p associated with microcephaly, craniosynostosis and abnormal maternal serum biochemistry

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Title:	Prenatal diagnosis and molecular cytogenetic characterization of de novo pure partial trisomy 6p associated with microcephaly, craniosynostosis and abnormal maternal serum biochemistry
Authors:	陳持平;Chen, Chih-Ping;Ming Cheng;Chen-Yu Chen;Schu-Rern Chern;Peih-Shan Wu;Shun-Ping Chang;Yu-Ling Kuo;Wen-Lin Chen;Chen-Wen Pan;Wayseen Wang
Contributors:	生物科技學系
Keywords:	BMP6;Craniosynostosis;Microcephaly;Partial trisomy 6p;Prenatal diagnosis
Date:	2014-02
Issue Date:	2014-06-04 02:20:16 (UTC+0)
Abstract:	We present prenatal diagnosis and molecular cytogenetic characterization of de novo pure trisomy 6p22.3 → p25.3 encompassing BMP6 in a fetus associated with microcephaly and craniosynostosis on prenatal ultrasound, abnormal maternal serum biochemistry of a low PAPP-A level in the first-trimester combined test, and a karyotype of 46,XX,der(22)t(6;22)(p22.3;p13)dn. The present case demonstrates the usefulness of rapid prenatal identification of the origin of the extra chromosome material on the short arm of an acrocentric chromosome by spectral karyotyping, fluorescence in situ hybridization and array comparative genomic hybridization. We review the phenotypic abnormality of craniosynostosis in previously reported patients with partial trisomy 6p. We discuss the genotype–phenotype correlation of the involved gene of BMP6 in this case.
Relation:	GENE
Appears in Collections:	[Department of Biotechnology] Journal Article

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