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

Chih-Ping Chen; Ming Chen; Chen-Yu Chen; Schu-Rern Chern; Peih-Shan Wu; Shun-Ping Chang; Yu-Ling Kuo; Wen-Lin Chen; Chen-Wen Pan; Wayseen Wang

doi:10.1016/j.gene.2013.12.036

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

Gene. 2014 Feb 25;536(2):425-9. doi: 10.1016/j.gene.2013.12.036. Epub 2013 Dec 25.

Authors

Affiliations

¹ Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address: cpc_mmh@yahoo.com.
² Department of Medical Research, Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan; Department of Genomic Medicine, Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan; Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan.
³ Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
⁴ Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.
⁵ Gene Biodesign Co. Ltd, Taipei, Taiwan.
⁶ Department of Medical Research, Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan; Department of Genomic Medicine, Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan.
⁷ Department of Obstetrics and Gynecology, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.
⁸ Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

PMID: 24374139
DOI: 10.1016/j.gene.2013.12.036

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.

Keywords: BMP6; Craniosynostosis; FISH; Microcephaly; MoM; NT; OMIM; Online Mendelian Inheritance in Man; PAPP-A; Partial trisomy 6p; Prenatal diagnosis; SKY; TGF-β; aCGH; array comparative genomic hybridization; de novo; der; derivative chromosome; dn; dup; duplication; fluorescence in situ hybridization; multiples of the median; nuchal translucency; pregnancy-associated plasma protein-A; spectral karyotyping; t; transforming growth factor-β; translocation; β-hCG; β-human chorionic gonadotrophin.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Biochemistry / methods
Bone Morphogenetic Protein 6 / genetics
Chromosome Aberrations
Chromosomes, Human, Pair 6 / genetics
Craniosynostoses / genetics*
Cytogenetics / methods
Female
Fetus
Genetic Association Studies / methods
Genetic Predisposition to Disease / genetics*
Humans
Microcephaly / genetics*
Pregnancy-Associated Plasma Protein-A / genetics
Pregnancy-Associated Plasma Protein-A / metabolism
Prenatal Diagnosis / methods
Spectral Karyotyping / methods
Trisomy / genetics*
Ultrasonography, Prenatal / methods

Substances

BMP6 protein, human
Bone Morphogenetic Protein 6
Pregnancy-Associated Plasma Protein-A
PAPPA protein, human

Supplementary concepts

Chromosome 6, trisomy 6p