Yazar "Ercal D." seçeneğine göre listele

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  • Küçük Resim Yok
    Öğe
    Indications for referral of Turner's syndrome cases diagnosed prenatally
    (2005) Yilmaz B.; Özkınay F.; Ercal D.; Sagol S.; Kanit H.; Kirayoglu H.; Özkınay, Cihangir
    We performed a retrospective study of 17 Turner's syndrome (TS) cases who were diagnosed prenatally in our Genetic Diagnostic Centre, Alsancak-Izmir, Turkey, during the period 2000-2005. The indications for prenatal diagnosis, ultra-sonographic findings and demographic data of the mothers were evaluated from patient records. The most frequent indications for prenatal diagnostic intervention were cystic hygroma (6/17) and hydrops fetalis (4/17). Other indications were advanced maternal age, abnormal triple test [alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG), unconjugated estriol (Estriol)] levels in the diagnosis of Down's syndrome and fetal growth retardation. A 45,X non-mosaic karyotype (14/17) was detected in 14 of these cases, while three showed mosaicism with the following karyotypes: 45,XO/46,XX, 45,XO/46,XY and 45,XO/46,X,del (X)(q21;qter), respectively.
  • Küçük Resim Yok
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    Intracardiac echogenic focus and cytogenetic abnormalities
    (2009) Kirbiyik O.; Durmaz B.; Cogulu O.; Akin H.; Avci C.B.; Gunduz C.; Ercal D.; Özkınay F.
    [No abstract available]
  • Küçük Resim Yok
    Öğe
    A rare chromosomal rearrangement [INV(2)(p11, q13)] in a 37-year-old normal male and 45,X/46,X, + MAR in His daughter [4]
    (2005) Özkınay F.; Onay H.; Giray O.; Cogulu O.; Ercal D.; Sagol S.
    [No abstract available]
  • Küçük Resim Yok
    Öğe
    Two extra euchromatic bands in the qh region of chromosome 9
    (2005) Özkınay F.; Ercal D.; Özkınay, Cihangir; Onay H.; Bora E.; Erler A.
    Two extra euchromatic bands in the qh region of chromosome 9: Chromosome analysis in a fetus revealed an abnormal appearance of chromosome 9. The secondary constriction region of chromosome 9 was very large and two separate G+ bands were observed within this region with GTG banding. Parents' karyotypes showed maternal inheritance of this variant chromosome 9. Two G+ bands were stained negative with C banding both in the fetus and in the mother. The mother was phenotypically normal. Regarding phenotypically normal mother, normal fetal ultrasonographic findings and the similar cases described before in the literature it was considered that the fetus would be normal. Physical examination of the baby was normal after birth as expected. The existence of two G+ bands in 9qh was considered to be a normal variant in humans.