A case of Zellweger syndrome with clonal 46, XX, t(1;2) (q43;q21) cytogenetic abnormality Klonal 46XX, t(1;2) (q43;q21) si̇togeneti̇k anomali̇si̇ i̇le karakteri̇ze Zellweger sendromu olgusu
Erciyes Tip Dergisi, cilt.26, sa.3, ss.145-148, 2004 (Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 26 Sayı: 3
- Basım Tarihi: 2004
- Dergi Adı: Erciyes Tip Dergisi
- Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.145-148
- Anahtar Kelimeler: Agenesis, Chromosomal abnormality, Corpus callosum, Zellweger syndrome
- Sağlık Bilimleri Üniversitesi Adresli: Hayır
Özet
Zellweger syndrome is usually a lethal disease with severe clinical, pathological and biochemical abnormalities, including a typical craniofacial dysmorphism and neuronal migration disturbances present at birth. Cytogenetic abnormalities, reported in Zellweger syndrome are very rare. Here we present a 6 month-old child in a consanguineous family (second cousin marriage) with hypotonia, high forehead with flat fades and hepatomegaly findings. Cleft plate, corpus callosum agenesis and renal cysts are among other remarkable findings.