Mosaic small supernumerary marker chromosome 1 at amniocentesis: prenatal diagnosis, molecular genetic analysis and literature review

Chih-Ping Chen; Ming Chen; Yi-Ning Su; Jian-Pei Huang; Schu-Rern Chern; Peih-Shan Wu; Jun-Wei Su; Shun-Ping Chang; Yu-Ting Chen; Chen-Chi Lee; Li-Feng Chen; Chen-Wen Pan; Wayseen Wang

doi:10.1016/j.gene.2013.07.048

Mosaic small supernumerary marker chromosome 1 at amniocentesis: prenatal diagnosis, molecular genetic analysis and literature review

Gene. 2013 Oct 15;529(1):169-75. doi: 10.1016/j.gene.2013.07.048. Epub 2013 Aug 7.

Authors

Chih-Ping Chen¹, Ming Chen, Yi-Ning Su, Jian-Pei Huang, Schu-Rern Chern, Peih-Shan Wu, Jun-Wei Su, Shun-Ping Chang, Yu-Ting Chen, Chen-Chi Lee, Li-Feng Chen, Chen-Wen Pan, Wayseen Wang

Affiliation

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: [email protected].

PMID: 23933412
DOI: 10.1016/j.gene.2013.07.048

Abstract

We present prenatal diagnosis and molecular cytogenetic analysis of mosaic small supernumerary marker chromosome 1 [sSMC(1)]. We review the literature of sSMC(1) at amniocentesis and chromosome 1p21.1-p12 duplication syndrome. We discuss the genotype-phenotype correlation of the involved genes of ALX3, RBM15, NTNG1, SLC25A24, GPSM2, TBX15 and NOTCH2 in this case.

Keywords: AFP; Amniocentesis; CNS; Chromosome 1p21.1-p12 duplication syndrome; FISH; IUGR; MCB; Mosaicism; NT; OMIM; Online Mendelian Inheritance in Man; PDA; Prenatal diagnosis; QF-PCR; SKY; Small supernumerary marker chromosome 1; UPD; VSD; aCGH; array comparative genomic hybridization; central nervous system; del; deletion; der; derivative chromosome; dup; duplication; fluorescence in situ hybridization; intrauterine growth restriction; inv; inverted; mar; marker chromosome; mat; maternal; multicolor banding; nuchal translucency; patent ductus arteriosus; quantitative fluorescent polymerase chain reaction; r; ring chromosome; sSMC; small supernumerary marker chromosome; spectral karyotyping; uniparental disomy; ventricular septal defect; α-fetoprotein.

Publication types

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

MeSH terms

Adult
Amniocentesis / methods*
Antiporters / genetics
Calcium-Binding Proteins / genetics
Chromosome Duplication
Chromosomes, Human, Pair 1 / genetics*
Comparative Genomic Hybridization
Female
GPI-Linked Proteins / genetics
Genetic Association Studies
Genetic Markers*
Genetic Testing
Homeodomain Proteins / genetics
Humans
In Situ Hybridization, Fluorescence
Intracellular Signaling Peptides and Proteins / genetics
Mitochondrial Proteins / genetics
Mosaicism
Nerve Tissue Proteins / genetics
Netrins
RNA-Binding Proteins / genetics
Receptor, Notch2 / genetics
T-Box Domain Proteins / genetics

Substances

ALX3 protein, human
Antiporters
Calcium-Binding Proteins
GPI-Linked Proteins
GPSM2 protein, human
Genetic Markers
Homeodomain Proteins
Intracellular Signaling Peptides and Proteins
Mitochondrial Proteins
NOTCH2 protein, human
NTNG1 protein, human
Nerve Tissue Proteins
Netrins
RBM15 protein, human
RNA-Binding Proteins
Receptor, Notch2
SLC25A24 protein, human
T-Box Domain Proteins
TBX15 protein, human