Výsledky vyhledávání - "S B, Karaüzüm"

Prenatal diagnosis of a de novo supernumerary marker chromosome originating from chromosome 16

Autor: S, Yakut, Z, Cetin, M, Simşek, S B, Karaüzüm, A, Tükün, G, Lüleci

Publikováno v: Genetic counseling (Geneva, Switzerland). 20(4)

Prenatal diagnosis of a de novo supernumerary marker chromosome originating from chromosome 16: A 37 year old pregnant woman was referred for amniocentesis at 18 weeks of gestation due to advanced maternal age and abnormal serum biochemistry. A nonsa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::724599cf7ef0719aa157ed6b71f72d2c
https://pubmed.ncbi.nlm.nih.gov/20162867

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Partial trisomy 4(q31qter) due to maternal 4;5 balanced translocation in a neonate

Autor: D A, Senses, F, Silan, H, Uzun, D, Alagöz, C, Zafer, K, Kocabay, S B, Karaüzüm, Z, Cetin

Publikováno v: Genetic counseling (Geneva, Switzerland). 18(2)

We describe a male neonate with a duplication of 4(q31.3qter) due to unbalanced segregation of a maternal translocation (4;5)(31.3;p15.1). He has a high broad nasal bridge, large, low-set ears, epicanthal folds, long philtrum, retrognathia, high arch

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::49bfe2010deafc867ca0c6c70f8fdb43
https://pubmed.ncbi.nlm.nih.gov/17710868

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