PMID- 28805616
OWN - NLM
STAT- MEDLINE
DCOM- 20180509
LR  - 20180509
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 56
IP  - 4
DP  - 2017 Aug
TI  - Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a 
      small supernumerary marker chromosome derived from chromosome 16.
PG  - 545-549
LID - S1028-4559(17)30155-9 [pii]
LID - 10.1016/j.tjog.2017.05.004 [doi]
AB  - OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic 
      characterization of a small supernumerary marker chromosome (sSMC) derived from 
      chromosome 16. CASE REPORT: A 28-year-old woman underwent amniocentesis at 17 
      weeks of gestation because of abnormal maternal serum screening for Down 
      syndrome. Amniocentesis revealed a karyotype of 47,XY,+mar[5]/46,XY[9]. Parental 
      karyotypes were normal. Prenatal ultrasound findings were unremarkable. Array 
      comparative genomic hybridization (aCGH) analysis of cultured amniocytes revealed 
      a de novo 16% gene dosage increase of 16q11.2-q22.1. Repeat amniocentesis at 21 
      weeks of gestation revealed a karyotype of 47,XY,+mar[10]/46,XY[31]. aCGH 
      analysis of uncultured amniocytes revealed a result of arr 16q11.2q22.1 
      (46,492,626-68,867,969) x 2.20 with a log2 ratio of 0.15 encompassing RPGRIP1L, 
      FTO, SLC6A2, BBS2 and CDH1. Interphase fluorescence in situ hybridization (FISH) 
      analysis on uncultured amniocytes detected partial trisomy 16q in 36/137 (26.3%) 
      of uncultured amniocytes. Polymorphic DNA marker analysis on amniocytes and 
      parental bloods excluded uniparental disomy 16. Premature labor occurred at 25 
      weeks of gestation, and a 585-g male baby without craniofacial dysmorphism was 
      delivered and survived. At age 1(1/2) years, pediatric follow-ups revealed normal 
      psychomotor development, normal body weight, short stature, congenital 
      hypothyroidism, hearing impairment and hypospadias in the neonate, and the 
      peripheral blood had a karyotype of 46,XY in 40 cultured lymphocytes. CONCLUSION: 
      aCGH, interphase FISH and polymorphic DNA marker analyses of uncultured 
      amniocytes are useful for confirmation of prenatally detected mosaic sSMCs at 
      amniocentesis.
CI  - Copyright (c) 2017. Published by Elsevier B.V.
FAU - Chen, Chih-Ping
AU  - Chen CP
AD  - 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.
FAU - Ko, Tsang-Ming
AU  - Ko TM
AD  - Genephile Bioscience Laboratory, Ko's Obstetrics and Gynecology, Taipei, Taiwan.
FAU - Chern, Schu-Rern
AU  - Chern SR
AD  - Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
FAU - Wu, Peih-Shan
AU  - Wu PS
AD  - Gene Biodesign Co. Ltd, Taipei, Taiwan.
FAU - Chen, Shin-Wen
AU  - Chen SW
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Lai, Shih-Ting
AU  - Lai ST
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Yang, Chien-Wen
AU  - Yang CW
AD  - Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
FAU - Pan, Chen-Wen
AU  - Pan CW
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Wang, Wayseen
AU  - Wang W
AD  - Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; 
      Department of Bioengineering, Tatung University, Taipei, Taiwan.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - China (Republic : 1949- )
TA  - Taiwan J Obstet Gynecol
JT  - Taiwanese journal of obstetrics & gynecology
JID - 101213819
RN  - 0 (Genetic Markers)
RN  - Chromosome 16, trisomy 16q
SB  - IM
MH  - Adult
MH  - Amniocentesis
MH  - Chromosomes, Human, Pair 16
MH  - Comparative Genomic Hybridization
MH  - Cytogenetic Analysis
MH  - Female
MH  - Genetic Markers
MH  - Gestational Age
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Karyotype
MH  - Karyotyping
MH  - Live Birth
MH  - Male
MH  - Mosaicism/*embryology
MH  - Pregnancy
MH  - Prenatal Diagnosis/*methods
MH  - Trisomy/*diagnosis
OTO - NOTNLM
OT  - 16q11.2-q22.1 duplication
OT  - Chromosome 16
OT  - Prenatal diagnosis
OT  - Small supernumerary marker chromosome
EDAT- 2017/08/15 06:00
MHDA- 2018/05/10 06:00
CRDT- 2017/08/15 06:00
PHST- 2017/05/25 00:00 [accepted]
PHST- 2017/08/15 06:00 [entrez]
PHST- 2017/08/15 06:00 [pubmed]
PHST- 2018/05/10 06:00 [medline]
AID - S1028-4559(17)30155-9 [pii]
AID - 10.1016/j.tjog.2017.05.004 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2017 Aug;56(4):545-549. doi: 10.1016/j.tjog.2017.05.004.