Dicentric Chromosome 14;18 Plus Two Additional CNVs in a Girl with Microform Holoprosencephaly and Turner Stigmata

    December 2013 in “ Balkan Journal of Medical Genetics ”
    Adriana Sireteanu, M Voloşciuc, Mihaela Grămescu, Ev. Gorduza, Carmen Vulpoi, Ilinca Frunză, Cristina Rusu
    TLDR Microarray analysis helps find hidden chromosomal changes in patients with intellectual disabilities and birth defects.
    The study reported on a 20-year-old female exhibiting features of Turner syndrome, minor holoprosencephaly, and excessive hair growth, alongside intellectual disability. Cytogenetic analysis revealed a pseudodicentric 14;18 chromosome, and a genome-wide SNP array identified a terminal deletion and duplication on chromosome 18, as well as a duplication on chromosome 16. The findings highlighted the significance of microarray analysis in identifying cryptic chromosomal rearrangements in patients with intellectual disabilities and multiple congenital anomalies.
    Discuss this study in the Community →

    Related Community Posts Join

    6 / 935 results

      community Are a lot of men already losing their hair at 25?

      in Chat  153 upvotes 2 years ago
      The conversation discusses the perception of increased hair loss among young men, with some attributing it to heightened awareness or environmental factors. Various treatments are mentioned, including Minoxidil, Finasteride, microneedling, scalp massages, and future hair transplant methods.

      community I really wish I started Propecia sooner

      in Finasteride/Dutasteride  29 upvotes 3 years ago
      A 27-year-old man's experience with taking Finasteride to treat hair loss and the positive side effects he has experienced, such as improved skin. The user also shared their journey of how they were scared away from taking Finasteride due to fear of possible side effects before eventually deciding to take it.

      community Post Finasteride Syndrome, A dangerous lie.

      in Chat  142 upvotes 2 years ago
      A user initially had side effects from finasteride, attributed them to anxiety and the nocebo effect, and after resuming the drug, experienced positive effects and now warns against misinformation about Post Finasteride Syndrome.

      community It works. About a 1 year transformation.

      in Progress Pictures  613 upvotes 2 years ago
      A user's experience with hair loss treatments, specifically Minoxidil and finasteride, which they have used without side effects for a year. Other users shared their experiences and advice about potential side effects and supplements to help.

    Related Research

    1 / 1 results