CLINICAL MANIFESTATIONS OF PARTIAL TRISOMY 4p
Demirhan O, Özgünen FT, Taştemir D
*Corresponding Author: Osman Demirhan, Department of Medical Biology and Genetics, Faculty of Medicine, Çukurova University, 01330 Balcalı-Adana/Turkey; Tel. +90-322-338-7140; Fax. +90-322-338-7140; E-mail. osdemir@cu.edu.tr
page: 61

MATERIALS AND METHODS

Subjects. A 28-year-old woman with a history of recurrent miscarriages, was referred by the Department of Obstetrics and Gynecology, Çukurova University, Adana, Turkey, to our genetics laboratory for prenatal diagnosis because of fetal intrauterine growth retardation associated with lung and kidney hypoplasia, and congenital heart defects at 20 weeks’ gestation. The woman and her 39-yearold husband were healthy and phenotypically normal. They were not consanguineous. The family history revealed the occurrence of recurrent miscarriages on both sides but not of congenital anomalies. The mother had been pregnant four times before, which on two occasions had resulted in miscarriages during the first trimester, and on two occasions in healthy children. In the present pregnancy, a level III ultrasound showed hypoplasia of fetal lungs and kidneys, free intra-abdominal fluid, and increased occipitofrontal diameter of the head/biparietal diameter of the head (OFD/BPD) ratio. Fetal echocardiography showed cardiomegaly, right venticular hypertrophy, tricuspid insufficiency and ventricular septal defect. Cytogenetic Analysis. The mother was referred to our amniocentesis laboratory for karyotyping. Amniotic fluid (20 mL) was obtained transabdominally. The karyotype of the fetus was obtained from an amniotic fluid sample, using flask cell culture and submitted to cell culture lasting 10 days. Karyotyping was routinely performed by G-banding using the trypsin-giemsa staining technique [7]. At least 20 metaphases were analyzed. Both parents were subjected to chromosomal analysis, based on standard blood lymphocyte culture and G-banding techniques. Twenty metaphases were microscopically analyzed for parents.



Number 26
Number 26 VOL. 26(2), 2023 All in one
Number 26
VOL. 26(2), 2023
Number 26
VOL. 26, 2023 Supplement
Number 26
VOL. 26(1), 2023
Number 25
VOL. 25(2), 2022
Number 25
VOL. 25 (1), 2022
Number 24
VOL. 24(2), 2021
Number 24
VOL. 24(1), 2021
Number 23
VOL. 23(2), 2020
Number 22
VOL. 22(2), 2019
Number 22
VOL. 22(1), 2019
Number 22
VOL. 22, 2019 Supplement
Number 21
VOL. 21(2), 2018
Number 21
VOL. 21 (1), 2018
Number 21
VOL. 21, 2018 Supplement
Number 20
VOL. 20 (2), 2017
Number 20
VOL. 20 (1), 2017
Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006