Year: 1999 Month: 9 Volume: 34 Issue 3
When the Turkish word exists
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Year: 1999
Month: 9
Valume: 34
Issue 3
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Trisomy 13 Syndrome: Two Cases
Mehmet Vural;
İstanbul Üniversitesi Cerrahpaşa Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, İstanbul
Beyhan Tüysüz;
İstanbul Üniversitesi Cerrahpaşa Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Genetik ve Teratoloji Bilim Dalı, İstanbul
Ufuk Yanar;
İstanbul Üniversitesi Cerrahpaşa Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, İstanbul
Barbaros Ilıkkan;
İstanbul Üniversitesi Cerrahpaşa Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, İstanbul
Hülya Akdeniz;
İstanbul Üniversitesi Cerrahpaşa Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, İstanbul
Yıldız Perk;
İstanbul Üniversitesi Cerrahpaşa Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, İstanbul
Özdemir İlter;
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Mehmet Vural;
İstanbul Üniversitesi Cerrahpaşa Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, İstanbul
Abstract

Summary
Trisomy 13 was found in the karyotypes of a one-day-old boy with microphtalmia, hipotelorism, localized scalp defects, polidactyly and of a one-day-old girl with cleft lip and cleft palate. Both cases died because of heavy cardiac malformations. Trisomy 13 syndrome is characterized by cranio-fascial anomalies (microcephaly, microphtalmia, cleft lip, cleft palate, localized scalp defects in the parieto-occipital area), polidactyly and holoprosencephaly type defects. Being rare trisomic syndrome, we piked to discuss these cases in view of the literature.
Key words: Trisomy 13 Syndrome, Capillary Hemangiomata, Polidactyly, Scalp Defect, Cerebellar Hypoplasia

Full Text

Summary
Trisomy 13 was found in the karyotypes of a one-day-old boy with microphtalmia, hipotelorism, localized scalp defects, polidactyly and of a one-day-old girl with cleft lip and cleft palate. Both cases died because of heavy cardiac malformations. Trisomy 13 syndrome is characterized by cranio-fascial anomalies (microcephaly, microphtalmia, cleft lip, cleft palate, localized scalp defects in the parieto-occipital area), polidactyly and holoprosencephaly type defects. Being rare trisomic syndrome, we piked to discuss these cases in view of the literature.
Key words: Trisomy 13 Syndrome, Capillary Hemangiomata, Polidactyly, Scalp Defect, Cerebellar Hypoplasia

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