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
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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.
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