PMID- 32039787
OWN - NLM
STAT- MEDLINE
DCOM- 20201111
LR  - 20201111
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 59
IP  - 1
DP  - 2020 Jan
TI  - Prenatal diagnosis of partial monosomy 21q (21q22.1-->qter) associated with 
      intrauterine growth restriction and corpus callosum dysgenesis.
PG  - 157-161
LID - S1028-4559(19)30294-3 [pii]
LID - 10.1016/j.tjog.2019.11.027 [doi]
AB  - OBJECTIVE: A prenatal diagnosis of partial monosomy 21q(21q22.1--> qter) in fetus 
      with intrauterine growth restriction and corpus callosum dysgenesis but escaped 
      from the detection by cell free DNA testing was reported. CASE REPORT: A 
      31-year-old, primigravida women, presented with intrauterine growth restriction 
      and corpus callosum dysgenesis at 23 weeks of gestational age by anatomic 
      ultrasound screening. The interphase fluorescence in situ hybridization (FISH) 
      analysis on amniocytes revealed monosomy 21, while the cytogenetic analysis and 
      array comparative genomic hybridization (CGH) with CytoScan gene chip ascertained 
      a 12.35 Mb deletion at 21q22.1q22.3. CONCLUSION: Although noninvasive prenatal 
      testing is used extensively and can be applied to certain microdeletion diseases, 
      the application for uncommon deletion disorders such as the present case remains 
      limited. Prenatal examination with detailed ultra-sonography combined with 
      different modalities of invasive prenatal testing can provide a more 
      comprehensive information.
CI  - Copyright (c) 2020. Published by Elsevier B.V.
FAU - Chen, Ying-Chung
AU  - Chen YC
AD  - Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, 
      Taiwan; Department of Genomic Medicine and Center for Medical Genetics, Changhua 
      Christian Hospital, Changhua, Taiwan.
FAU - Wu, Wan-Ju
AU  - Wu WJ
AD  - Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, 
      Taiwan; Department of Genomic Medicine and Center for Medical Genetics, Changhua 
      Christian Hospital, Changhua, Taiwan.
FAU - Chang, Shun-Ping
AU  - Chang SP
AD  - Department of Genomic Medicine and Center for Medical Genetics, Changhua 
      Christian Hospital, Changhua, Taiwan; Department of Genomic Science and 
      Technology, Changhua Christian Hospital Healthcare System, Changhua Christian 
      Hospital, Changhua, Taiwan.
FAU - Ma, Gwo-Chin
AU  - Ma GC
AD  - Department of Genomic Medicine and Center for Medical Genetics, Changhua 
      Christian Hospital, Changhua, Taiwan; Department of Genomic Science and 
      Technology, Changhua Christian Hospital Healthcare System, Changhua Christian 
      Hospital, Changhua, Taiwan; Department of Medical Laboratory Science and 
      Biotechnology, Central Taiwan University of Science and Technology, Taichung, 
      Taiwan.
FAU - Chen, Ming
AU  - Chen M
AD  - Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, 
      Taiwan; Department of Genomic Medicine and Center for Medical Genetics, Changhua 
      Christian Hospital, Changhua, Taiwan; Department of Genomic Science and 
      Technology, Changhua Christian Hospital Healthcare System, Changhua Christian 
      Hospital, Changhua, Taiwan; Department of Obstetrics and Gynecology, College of 
      Medicine, National Taiwan University, Taipei, Taiwan; Department of Medical 
      Research, Changhua Christian Hospital, Changhua, Taiwan; Department of Molecular 
      Biotechnology, Da-Yeh University, Changhua, Taiwan. Electronic address: 
      mingchenmd@gmail.com.
LA  - eng
PT  - Case Reports
PL  - China (Republic : 1949- )
TA  - Taiwan J Obstet Gynecol
JT  - Taiwanese journal of obstetrics & gynecology
JID - 101213819
RN  - Chromosome 21 monosomy
SB  - IM
MH  - Adult
MH  - Agenesis of Corpus Callosum/*diagnosis/embryology/genetics
MH  - Chromosomes, Human, Pair 21/genetics
MH  - Comparative Genomic Hybridization
MH  - Female
MH  - Fetal Growth Retardation/*diagnosis/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Monosomy/*diagnosis/genetics
MH  - Pregnancy
MH  - Prenatal Diagnosis/*methods
OTO - NOTNLM
OT  - Down syndrome
OT  - Genetics
OT  - Monosomy
OT  - Prenatal diagnosis
OT  - Single umbilical artery
COIS- Declaration of Competing Interest None.
EDAT- 2020/02/11 06:00
MHDA- 2020/11/12 06:00
CRDT- 2020/02/11 06:00
PHST- 2019/04/22 00:00 [accepted]
PHST- 2020/02/11 06:00 [entrez]
PHST- 2020/02/11 06:00 [pubmed]
PHST- 2020/11/12 06:00 [medline]
AID - S1028-4559(19)30294-3 [pii]
AID - 10.1016/j.tjog.2019.11.027 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2020 Jan;59(1):157-161. doi: 10.1016/j.tjog.2019.11.027.