PMID- 24455347
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20140123
LR  - 20211021
IS  - 2090-6684 (Print)
IS  - 2090-6692 (Electronic)
IS  - 2090-6692 (Linking)
VI  - 2013
DP  - 2013
TI  - Prenatal diagnosis of 4p and 4q subtelomeric microdeletion in de novo ring 
      chromosome 4.
PG  - 248050
LID - 10.1155/2013/248050 [doi]
LID - 248050
AB  - Ring chromosomes are unusual abnormalities that are observed in prenatal 
      diagnosis. A 23-year-old patient (gravida 1, para 0) referred for amniocentesis 
      due to abnormal maternal serum screening result in the 16th week of second 
      pregnancy. Cytogenetic analysis of cultured amniyotic fluid cells revealed out 
      ring chromosome 4. Both maternal and paternal karyotypes were normal. Terminal 
      deletion was observed in both 4p and 4q arms of ring chromosome 4 by fluorescence 
      in situ hybridization (FISH). However deletion was not observed in the WHS 
      critical region of both normal and ring chromosome 4 by an additional FISH study. 
      These results were confirmed by means of array-CGH showing terminal deletions on 
      4p16.3 (130 kb) and 4q35.2 (2.449 Mb). In the 21th week of pregnancy, no gross 
      anomalia, except two weeks symmetric growth retardation, was present in the fetal 
      ultrasonographic examination. According to our review of literature, this is the 
      first prenatal case with 4p and 4q subtelomeric deletion of ring chromosome 4 
      without the involvement of WHS critical region. Our report describes the prenatal 
      case with a ring chromosome 4 abnormality completely characterized by array-CGH 
      which provided complementary data for genetic counseling of prenatal diagnosis.
FAU - Akbas, Halit
AU  - Akbas H
AD  - Department of Medical Biology, Faculty of Medicine, Harran University, 63100 
      Sanliurfa, Turkey ; Department of Medical Biology and Genetics, Faculty of 
      Medicine, Dicle University, 21280 Diyarbakir, Turkey.
FAU - Cine, Naci
AU  - Cine N
AD  - Department of Medical Genetics, Faculty of Medicine, Kocaeli University, 41000 
      Kocaeli, Turkey.
FAU - Erdemoglu, Mahmut
AU  - Erdemoglu M
AD  - Department of Gynecology and Obstetrics, Faculty of Medicine, Dicle University, 
      21280 Diyarbakir, Turkey.
FAU - Atay, Ahmet Engin
AU  - Atay AE
AD  - Department of Internal Medicine, Bagcilar Education and Research Hospital, 34200 
      Istanbul, Turkey.
FAU - Simsek, Selda
AU  - Simsek S
AD  - Department of Medical Biology and Genetics, Faculty of Medicine, Dicle 
      University, 21280 Diyarbakir, Turkey.
FAU - Turkyilmaz, Aysegul
AU  - Turkyilmaz A
AD  - Department of Medical Biology and Genetics, Faculty of Medicine, Dicle 
      University, 21280 Diyarbakir, Turkey.
FAU - Fidanboy, Mehmet
AU  - Fidanboy M
AD  - Department of Medical Biology and Genetics, Faculty of Medicine, Dicle 
      University, 21280 Diyarbakir, Turkey.
LA  - eng
PT  - Journal Article
DEP - 20131219
PL  - United States
TA  - Case Rep Obstet Gynecol
JT  - Case reports in obstetrics and gynecology
JID - 101576454
PMC - PMC3880738
EDAT- 2014/01/24 06:00
MHDA- 2014/01/24 06:01
PMCR- 2013/12/19
CRDT- 2014/01/24 06:00
PHST- 2013/09/28 00:00 [received]
PHST- 2013/10/29 00:00 [accepted]
PHST- 2014/01/24 06:00 [entrez]
PHST- 2014/01/24 06:00 [pubmed]
PHST- 2014/01/24 06:01 [medline]
PHST- 2013/12/19 00:00 [pmc-release]
AID - 10.1155/2013/248050 [doi]
PST - ppublish
SO  - Case Rep Obstet Gynecol. 2013;2013:248050. doi: 10.1155/2013/248050. Epub 2013 
      Dec 19.