PMID- 27148405
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20160505
LR  - 20201001
IS  - 1755-8166 (Print)
IS  - 1755-8166 (Electronic)
IS  - 1755-8166 (Linking)
VI  - 9
DP  - 2016
TI  - Prenatal diagnosis and genetic counseling in a fetus associated with risk of 
      Angelman syndrome with a small supernumerary marker chromosome derived from 
      chromosome 22.
PG  - 37
LID - 10.1186/s13039-016-0248-6 [doi]
LID - 37
AB  - BACKGROUND: Angelman syndrome (AS) is a neurodevelopmental disorder. AS patients 
      concomitant with sSMC are rather rare events. It will provide more useful and 
      proper information for genetic counseling to identify the sSMC origin. CASE 
      PRESENTATION: A 27-year-old woman was referred for genetic counseling and 
      prenatal diagnosis at 26 weeks of gestation due to her elder daughter, diagnosed 
      as Angelman syndrome (AS) with an interstitial deletion in one of the chromosomes 
      15, carrying a small supernumerary marker chromosome (sSMC). The G-banding 
      results of the woman and her current fetus both were 47,XX,+mar. In this paper, 
      fluorescence in situ hybridization (FISH) results showed that there was no 
      deletion of chromosome 15 in the woman and fetus. We demonstrated that the 
      proband's sSMC was maternally inherited and was an inv dup(22)(q11.1) , and that 
      the deletion in 15q11.2-q13.1 was de novo. CONCLUSIONS: Taking into account above 
      results and normal phenotypes of the proband's mother, in this case we suggest 
      that the sSMC don't increase the recurrence risk of AS. After prenatal diagnosis, 
      the woman chose to continue the pregnancy, and finally gave birth to a normal 
      female infant.
FAU - Hu, Yu-An
AU  - Hu YA
AD  - Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of 
      Medicine, 305 East Zhongshan Road, Nanjing, Jiangsu 210002 China.
FAU - Cui, Yingxia
AU  - Cui Y
AD  - Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of 
      Medicine, 305 East Zhongshan Road, Nanjing, Jiangsu 210002 China.
FAU - Fan, Xiaobo
AU  - Fan X
AD  - Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of 
      Medicine, 305 East Zhongshan Road, Nanjing, Jiangsu 210002 China.
FAU - Wu, Qiuyue
AU  - Wu Q
AD  - Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of 
      Medicine, 305 East Zhongshan Road, Nanjing, Jiangsu 210002 China.
FAU - Li, Weiwei
AU  - Li W
AD  - Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of 
      Medicine, 305 East Zhongshan Road, Nanjing, Jiangsu 210002 China.
FAU - Wang, Weiping
AU  - Wang W
AD  - Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of 
      Medicine, 305 East Zhongshan Road, Nanjing, Jiangsu 210002 China.
LA  - eng
PT  - Case Reports
DEP - 20160503
PL  - England
TA  - Mol Cytogenet
JT  - Molecular cytogenetics
JID - 101317942
PMC - PMC4855799
OTO - NOTNLM
OT  - Angelman syndrome
OT  - Genetic counseling
OT  - Prenatal diagnosis
OT  - Small supernumerary marker chromosomes (sSMC)
EDAT- 2016/05/06 06:00
MHDA- 2016/05/06 06:01
PMCR- 2016/05/03
CRDT- 2016/05/06 06:00
PHST- 2015/11/10 00:00 [received]
PHST- 2016/04/22 00:00 [accepted]
PHST- 2016/05/06 06:00 [entrez]
PHST- 2016/05/06 06:00 [pubmed]
PHST- 2016/05/06 06:01 [medline]
PHST- 2016/05/03 00:00 [pmc-release]
AID - 248 [pii]
AID - 10.1186/s13039-016-0248-6 [doi]
PST - epublish
SO  - Mol Cytogenet. 2016 May 3;9:37. doi: 10.1186/s13039-016-0248-6. eCollection 2016.