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Parental factors in prenatal decision making and the impact of prenatal genetic counseling: a study on Turkish families

Autor: P O, Simsek-Kiper, G E, Utine, B, Volkan-Salanci, Y, Alanay, D, Aktaş, M, Alikaşifoğlu, K, Boduroğlu, E, Tuncbilek

Publikováno v: Genetic counseling (Geneva, Switzerland). 25(1)

This study explored the social factors affecting prenatal decision making, the impact of genetic counseling on prenatal decision making, and how genetic counseling is perceived by Turkish women.A standardized questionnaire was given to 231 patients,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::9a8d6755d165b59b3c10f63e2aa78736
https://pubmed.ncbi.nlm.nih.gov/24783656

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Neocentric small supernumerary marker chromosomes (sSMC) – three more cases and review of the literature

Autor: T, Liehr, G E, Utine, U, Trautmann, A, Rauch, A, Kuechler, J, Pietrzak, J, Pietracz, E, Bocian, N, Kosyakova, K, Mrasek, K, Boduroglu, A, Weise, D, Aktas

Here we report on three new patients with neocentric small supernumerary marker chromosomes (sSMC) derived from chromosome 2, 13 and 15, respectively. The sSMC(13) and sSMC(15) had inverted duplicated shapes and the sSMC(2) a ring chromosome shape. A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::350cb8c3a48a0361c70c3be9cd5c0574
https://opus4.kobv.de/opus4-fau/frontdoor/index/index/docId/3114

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Opinions of Turkish physicians towards termination of pregnancy for fetal disorders

Autor: G E, Utine, P O, Kiper, B V, Salanci, Y, Alanay, D, Aktaş, M, Alikaşifoğlu, K, Boduroğlu, E, Tunçbilek

Publikováno v: Genetic counseling (Geneva, Switzerland). 22(4)

Termination of pregnancy (ToP) raises ethical dilemmas. Although ToP for fetal disorders is commonly approved by health professionals, their opinions and attitudes are influenced by a diversity of cultural contexts. The aim of the study is to investi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::51925212e80c5eed7b0799d5d9a66bfd
https://pubmed.ncbi.nlm.nih.gov/22303801

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Kabuki syndrome and trisomy 10p

Autor: G E, Utine, Y, Alanay, D, Atkaş, K, Boduroğlu, M, Alikaşifoğlu, E, Tunçbilek

Publikováno v: Genetic counseling (Geneva, Switzerland). 19(3)

Kabuki syndrome (KS) (MIM 147920) is a multiple congenital anomalies/mental retardation syndrome of unknown cause. There is multisystem involvement of anomalies, including 1) unique facial features, 2) postnatal growth retardation, 3) mild-to-moderat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::392c70d5333fa2e45db64c2838306137
https://pubmed.ncbi.nlm.nih.gov/18990985

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Coexistent mosaic monosomy 21 and fragile X syndrome in a mentally retarded male patient

Autor: G E, Utine, D, Aktas, K, Boduroğlu, M, Alikasifoğlu, E, Tunçbilek

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

Fragile X syndrome (FXS) is a well-recognized mental retardation syndrome with characteristic facial features and behavioural phenotype. Monosomy 21 is a rare cytogenetic aberration for which clinical features were incompletely defined since full mon

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::915e233cd4b21875be067c89902f3561
https://pubmed.ncbi.nlm.nih.gov/17710869

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Mosaicism for terminal deletion of 4q

Autor: G E, Utine, D, Aktas

Publikováno v: Genetic counseling (Geneva, Switzerland). 17(2)

Chromosomal imbalance affecting the long arm of chromosome 4 has been reported in a variety of distinct clinical conditions. Common clinical findings have been described for 4q deletions distal to 4q33 and termed as 4q terminal deletion syndrome. We

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a32e509cef883bf0c53812210bb5f229
https://pubmed.ncbi.nlm.nih.gov/16970039

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Partial trisomy 9q syndrome with a de novo tandem duplication of 9q22.2-q31.1

Autor: G E, Utine, C, Melotte, J R, Vermeesch, J P, Fryns

Publikováno v: Genetic counseling (Geneva, Switzerland). 16(4)

A female with a de novo tandem duplication of 9q22.2-q31.1 is presented. Molecular delineation of the breakpoints was made by microarray CGH and fluorescent in situ hybridisation. Involvement of 9q22.2-q31.1 seems to be sufficient to produce the char

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1b91cd7c7749a91273cb9011f2dcdfca
https://pubmed.ncbi.nlm.nih.gov/16440884

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Partial trisomy 11q syndrome (11q23.1--11qter) due to de novo t (11q; 13q) detected by multicolor fluorescence in situ hybridisation

Autor: G E, Utine, R, Thoelen, H, Peeters, J, Vermeesch, J P, Fryns

Publikováno v: Genetic counseling (Geneva, Switzerland). 16(3)

In this report we describe the identification of a de novo 46, XX, 13q + by multicolour fluorescence in situ hybridisation (M-FISH), as a partial distal 11q trisomy (11q23.1--11qter). The clinical phenotype association with this distal 11q trisomy is

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::27ab0c2a716408757722e540a755eabd
https://pubmed.ncbi.nlm.nih.gov/16259326

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