Mosaic small supernumerary marker chromosome 1 at amniocentesis: prenatal diagnosis, molecular genetic analysis and literature review.
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.
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.
Chih-Ping
CP
Chen
Ming
M
Chen
Yi-Ning
YN
Su
Jian-Pei
JP
Huang
Schu-Rern
SR
Chern
Peih-Shan
PS
Wu
Jun-Wei
JW
Su
Shun-Ping
SP
Chang
Yu-Ting
YT
Chen
Chen-Chi
CC
Lee
Li-Feng
LF
Chen
Chen-Wen
CW
Pan
Wayseen
W
Wang
D000328:Adult; D000649:Amniocentesis / Q000379:methods*; D017920:Antiporters / Q000235:genetics; D002135:Calcium-Binding Proteins / Q000235:genetics; D058674:Chromosome Duplication; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D058851:GPI-Linked Proteins / Q000235:genetics; D056726:Genetic Association Studies; D005819:Genetic Markers; D005820:Genetic Testing; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D024101:Mitochondrial Proteins / Q000235:genetics; D009030:Mosaicism; D009419:Nerve Tissue Proteins / Q000235:genetics; D000075385:Netrins; D016601:RNA-Binding Proteins / Q000235:genetics; D051883:Receptor, Notch2 / Q000235:genetics; D020825:T-Box Domain Proteins / Q000235:genetics
C485163:ALX3 protein, human; D017920:Antiporters; D002135:Calcium-Binding Proteins; D058851:GPI-Linked Proteins; C102754:GPSM2 protein, human; D005819:Genetic Markers; D018398:Homeodomain Proteins; D047908:Intracellular Signaling Peptides and Proteins; D024101:Mitochondrial Proteins; C497764:NOTCH2 protein, human; C463082:NTNG1 protein, human; D009419:Nerve Tissue Proteins; D000075385:Netrins; C431574:RBM15 protein, human; D016601:RNA-Binding Proteins; D051883:Receptor, Notch2; C487500:SLC25A24 protein, human; D020825:T-Box Domain Proteins; C523795:TBX15 protein, human
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