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    A Turkish Family with Loeys-dietz Syndrome and a Report of a Homozygous Patient with SMAD3 Pathogenic Variation
    (Galenos Yayincilik, 2022) Altindas, Betul Okur; Zamani, Ayse Gul; Oflaz, Mehmet Burhan; Gunes, Muhammed; Yildirim, Mahmut Selman
    Loeys-Dietz syndrome (LDS) is a rare autosomal dominant connective tissue disorder with multisystemic involvement caused by pathogenic genetic variations in the transforming growth factor-beta pathway. Here, we report a homozygous case with LDS. A newborn male patient who had congenital diaphragmatic hernia, aortic dilatation and talipes equinovarus was referred to our medical genetics polyclinic. After clinical evaluation, next generation sequencing analysis showed a homozygous c.859C>T pathogenic missense variation [R287W (p.Arg287Trp)] in the SMAD3 gene. It was confirmed that the parents harbor the variant heterozygously. Due to the autosomal dominant inheritance pattern, rarely seen biallelic individuals are expected to have severe clinical conditions. Since there was only one previous report of an individual harboring a homozygous SMAD3 variant in the literature; this case was presented to further enhance our understanding of LDS.
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    An Unusual Diagnostic Journey Through MLPA: From Spinal Muscular Atrophy to a Severe Case of Prader-Willi Syndrome
    (Erciyes Univ Sch Medicine, 2023) Goktas, Emine; Altindas, Betul Okur; Tarim, Hulya; Kayhan, Gulsum; Zamani, Ayse Gul; Yildirim, Mahmut Selman
    Background: Prader-Willi Syndrome (PWS) is a multisystemic disorder characterized by dysmorphic facies, hypotonia, developmental delay, cognitive impairment, hypogonadism, and obesity. It is caused by the absence of expression of paternally derived genes on chromosome 15. Here, we report the diagnostic journey of a case with severe neonatal hypotonia.Case Report: A neonatal patient was referred for the prediagnosis of spinal muscular atrophy (SMA). During the SMA Multiplex Ligation-dependent Probe Amplification (MLPA) analysis, a diminished signal of a reference probe on the 15q11.2 was revealed. Later, it was confirmed that she had a deletion confined to 15q11.2-q13.1, with a methylation pattern compatible with PWS.Conclusion: Since hypotonia might be the only finding in newborns with PWS, this case was presented to emphasize the importance of a comprehensive approach to such patients.
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    An Unusual Diagnostic Journey Through MLPA: From Spinal Muscular Atrophy to a Severe Case of Prader-Willi Syndrome
    (Erciyes Univ Sch Medicine, 2023) Goktas, Emine; Altindas, Betul Okur; Tarim, Hulya; Kayhan, Gulsum; Zamani, Ayse Gul; Yildirim, Mahmut Selman
    Background: Prader-Willi Syndrome (PWS) is a multisystemic disorder characterized by dysmorphic facies, hypotonia, developmental delay, cognitive impairment, hypogonadism, and obesity. It is caused by the absence of expression of paternally derived genes on chromosome 15. Here, we report the diagnostic journey of a case with severe neonatal hypotonia.Case Report: A neonatal patient was referred for the prediagnosis of spinal muscular atrophy (SMA). During the SMA Multiplex Ligation-dependent Probe Amplification (MLPA) analysis, a diminished signal of a reference probe on the 15q11.2 was revealed. Later, it was confirmed that she had a deletion confined to 15q11.2-q13.1, with a methylation pattern compatible with PWS.Conclusion: Since hypotonia might be the only finding in newborns with PWS, this case was presented to emphasize the importance of a comprehensive approach to such patients.