NON-INVASIVE SCREENING TEST PARADOX IN A CASE BORN WITH MIXED GONADAL DYSGENESIS (45,X/46,XY)
Cobanogullari H., Akcan N., Ergoren M.C.
*Corresponding Author: Assoc. Prof. M.C. Ergoren, PhD, Near East University, Faculty of Medicine, Department
of Medical Genetics, 99138 Nicosia, Cyprus. E-mail address: mahmutcerkez.ergoren@neu.edu.tr
page: 57
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CASE REPORT
A 38-year-old pregnant woman [G3P3] was admitted
to our clinic. A non-invasive prenatal diagnosis test (NIPT)
was performed at the 15th week of pregnancy. The results
of the NIPT indicated a probable risk for 45,X. Due to the
lockdowns at the beginning of the COVID-19 pandemic,
cordocentesis was offered at the 22nd week of pregnancy.
At that time, she presented to our clinic in the 26th week
of pregnancy. The family was informed that cordocentesis
is an invasive procedure and that there is a high risk
of losing the baby during cordocentesis. For this reason,
cordocentesis was not performed. After birth, karyotyping
of the peripheral blood and the epithelial cells of the oral
mucosa were performed and the karyotype of the baby
was determined as 45,X/ 46,XY+mar? respectively. No
numerical and/or structural anomalies were observed in
the karyotypes of parents and siblings. Based on the microarray
analysis of the analyzed sample, one copy of the
X chromosome was detected in all cells and the presence
of one copy of the Y chromosome was detected in a ~40%
mosaic state: arr(X)x1,(Y)x1[0.4].
Lastly, SRY gene duplication on Y chromosome was
detected by Fluorescent in situ Hybridization (FISH) and
microarray analysis. Clinical examination of the patient
showed ambiguous genitalia (clitoromegaly) and an abnormal
facial shape. Also was shown that the newborn
was phenotypically female, with the exception of neonatal
cliteromegaly. Prader staging was consistent with stage
1 and excessive lanugo pubescence was also observed,
which differed from typical Turner syndrome symptoms.
The baby underwent surgery for aortic coarctation. Based
on the clinical information provided, the marker chromosome
observed in the karyotype of the patient is likely the
mosaic chromosome Y. The results are consistent with the
genetic diagnosis of 45,X/46,XY mixed gonadal dysgenesis
Lastly, genetic counselling was offered to the family.
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