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.



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