TURNER SYNDROME WITH ISOCHROMOSOME Xq
AND FAMILIAL RECIPROCAL TRANSLOCATION
t(4;16)(p15.2;p13.1)
Cetin Z1, Mendilcioglu I2, Yakut S1, Berker-Karauzum S1,*, Karaman B3, Luleci G1
*Corresponding Author: Sibel Berker-Karauzum, Department of Medical Biology and Genetics, Faculty of
Medicine, Akdeniz University, Antalya, Turkey; Tel.: +90-242-249-69-70; Fax: + 90-242-227-44-82/227-44-95;
E-mail: sibelkarauzum@akdeniz.edu.tr
page: 57
|
|
CASE REPORT
The patient was born to non consanguineous phenotypically
normal parents and was referred to the Department
of Obstetrics and Gynaecology at the Faculty
of Medicine, Akdeniz University, Antalya, Turkey, for
evaluation of primary amenorrhea when she was 16
years old. Her mother and father were 22 and 32 years
old, respectively, at the time of her birth. Their family
included a 21-year-old brother and an 18-year-old
sister. Another pregnancy had resulted in spontaneous
abortion.
The patient was 135 cm tall and weighed 45 kg .
Physical examination showed short stature, undeveloped
breasts, and webbed neck. On ultrasound, her
ovaries could not be seen and the uterus was hypoplasic.
The plasma hormone levels were: luteinizing hormone
29.30 mIU/mL (2.40-12.60 mIU/mL); follicle
stimulating hormone 74.81 mIU/mL (3.50-12.50 mIU/
mL); estradiol 15.12 pg/mL (24.50-195.00 pg/mL);
thyroid stimulating hormone 5.92 uIU/mL (0.27-4.20
uIU/mL). Hematological parameters and plasma mineral
values were in normal ranges.
Peripheral blood samples were obtained from the
proband, her parents and siblings. Chromosome analyses
were performed using GTG banding [11]. A complex
karyotype including a balanced translocation between
chromosomes 4 and 16 and mosaicism of the isochromosome
Xq10 was observed during conventional
cytogenetic analyses of the proband (Figure 1a and 1b).
Using CBG-banding (C-band by barium hydroxide using Giemsa staining) studies showed one C-band on
isochromosome Xq, indicating that isochromosome X
was apparently monocentric. Fluorescent in situ hybridizaton
(FISH) studies used whole chromosome painting
probes specific to chromosomes 4 and 16 (Vysis Inc,
Downers Grove, IL, USA) to confirm the trans-location
between these chromosomes (Figure 1c and 1d). The
FISH studies, using a probe specific to chromosome
X, confirmed the presence of isochromosome Xq10
(Figure 1e). Metaphase plates were evaluated using an
α satellite (DXZ1) centromeric probe (Vysis Inc.) specific
for chromosome X to evaluate α satellite DNA on
the isochromosome Xq. Two centromeric signals were
observed in 91% of the peripheral blood lymphocytes,
one on the normal chromosome X and the other on the
isochromosome X. The FISH signal on isochromosome
Xq10 was more intense than that of the normal
chromosome X (Figure 1f). The final karyotype of the
proband was designated as 45,X,t(4;16)(p15.2;p13.1)
[9]/46,X,i(X)(q10),t(4;16) (p15.2;p13.1)[91].
The father’s karyotype was normal, whereas the
mother’s had the same balanced translocation and numerical
abnormalities of the chromosome X in a mosaic
state and was designated as 45,X,t(4;16)(p15.2;p13.1)
[2]/46, XX,t(4;16)(p15.2;p13.1)[93]/47,XXX,t(4;16)
(p15.2; p13.1)[5]. The same reciprocal translocation
was a observed in both of the proband’s siblings; the
maternal grandparents were not available for cytogenetic
analyses.
|
|
|
|
 |
Number 27
VOL. 27 (2), 2024 |
Number 27
VOL. 27 (1), 2024 |
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 |
|
|
