PMID- 27751425
OWN - NLM
STAT- MEDLINE
DCOM- 20170418
LR  - 20170418
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 55
IP  - 5
DP  - 2016 Oct
TI  - Molecular cytogenetic characterization of an inv dup(15) chromosome presenting as 
      a small supernumerary marker chromosome associated with the inv dup(15) syndrome.
PG  - 728-732
LID - S1028-4559(16)30139-5 [pii]
LID - 10.1016/j.tjog.2016.06.017 [doi]
AB  - OBJECTIVE: To present molecular cytogenetic characterization of an inverted 
      duplication of proximal chromosome 15 [inv dup(15)] presenting as a small 
      supernumerary marker chromosome (sSMC) associated with the inv dup(15) syndrome. 
      CASE REPORT: A 35-year-old woman underwent amniocentesis because of advanced 
      maternal age at 27 weeks of gestation, which revealed an sSMC that was confirmed 
      by fluorescence in situ hybridization (FISH) to be derived from chromosome 15. 
      Prenatal ultrasound findings were unremarkable. A 3434-g male baby was delivered 
      at term with no phenotypic abnormalities. The cord blood analysis revealed a 
      bisatellited dicentric inv dup(15). When followed up at 21 years of age, the 
      proband manifested hypotonia, ataxic gait, developmental delay, intellectual 
      disability, epilepsy, poor speech, and autism consistent with the inv dup(15) 
      syndrome. Array comparative genomic hybridization of the peripheral blood 
      revealed arr 15q11.1q13.2 (20,686,219-30,390,043) x 4, 15q13.2q13.3 
      (30,390,043-32,445,226) x 3. Conventional cytogenetic analysis of the peripheral 
      blood revealed a karyotype of 47,XY,+inv dup(15)(pter-->q13::q13-->pter). 
      Quantitative fluorescent polymerase chain reaction analysis showed a maternal 
      origin of the inv dup(15) chromosome. FISH analysis confirmed an inv dup(15) 
      chromosome. CONCLUSION: Molecular cytogenetic techniques are useful for rapid 
      diagnosis of an inv dup(15) chromosome associated with the inv dup(15) syndrome.
CI  - Copyright (c) 2016. 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 - Lin, Shuan-Pei
AU  - Lin SP
AD  - Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; 
      Department of Medicine, MacKay Medical College, New Taipei City, Taiwan; 
      Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan; MacKay Junior 
      College of Medicine, Nursing and Management, 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, Yen-Ni
AU  - Chen YN
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Chen, Shin-Wen
AU  - Chen SW
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Lee, Chen-Chi
AU  - Lee CC
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Town, Dai-Dyi
AU  - Town DD
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 - 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  - Isodicentric Chromosome 15 Syndrome
SB  - IM
MH  - Adult
MH  - Amniocentesis
MH  - Chromosome Disorders/*diagnosis/genetics
MH  - Chromosome Inversion
MH  - Chromosomes, Human, Pair 15/*genetics
MH  - Comparative Genomic Hybridization
MH  - Female
MH  - Genetic Markers
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Karyotyping
MH  - Male
MH  - Maternal Age
MH  - Pregnancy
MH  - Prenatal Diagnosis/*methods
OTO - NOTNLM
OT  - inverted duplication of proximal chromosome 15 syndrome
OT  - isodicentric chromosome 15 syndrome
OT  - small supernumerary marker chromosome 15
OT  - tetrasomy 15q
EDAT- 2016/10/19 06:00
MHDA- 2017/04/19 06:00
CRDT- 2016/10/19 06:00
PHST- 2016/06/14 00:00 [accepted]
PHST- 2016/10/19 06:00 [pubmed]
PHST- 2017/04/19 06:00 [medline]
PHST- 2016/10/19 06:00 [entrez]
AID - S1028-4559(16)30139-5 [pii]
AID - 10.1016/j.tjog.2016.06.017 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2016 Oct;55(5):728-732. doi: 10.1016/j.tjog.2016.06.017.