A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication.

Pallister-Killian syndrome (PKS) is a rare inherited disease with multiple congenital anomalies, profound intellectual disability, and the presence in the karyotype of sSMC - i(12)(p10). The frequency of PKS may be underestimated due to problems with cytogenetic diagnosis caused by tissue-specific mosaicism and usually a low percentage of peripheral blood cells containing sSMC. Such tissue-specific mosaicism also complicates a detailed analysis of the sSMC, which, along with the assessment of mosaicism in different tissues, is an important part of cytogenetic diagnosis in PKS. Unfortunately, a full-fledged diagnosis in PKS is either practically impossible or complicated. On the one hand, this is due to problems with the biopsy of various tissues (skin biopsy with fibroblast culture is most often used in practice); on the other - a low percentage of dividing peripheral blood cells containing sSMC, which often significantly complicates the analysis of its composition and organization. In the present study, a detailed analysis of sSMC was carried out in a patient with a characteristic clinical picture of PKS. A relatively high percentage of peripheral blood cells with sSMC (50%) made it possible to perform a detailed molecular cytogenetic analysis of de novo sSMC using chromosomal in situ suppression hybridization (CISS-hybridization), multicolor FISH (mFISH), multicolor chromosome banding (MCB), array CGH (aCGH), and quantitative real-time PCR (qPCR), and short tandem repeat (STR) - analysis. As a result, it was found that the sSMC is not a typical PKS derivative of chromosome 12. In contrast to the classical i(12)(p10) for PKS, the patient's cells contained an acrocentric chromosome consisting of 12p material. Clusters of telomeric repeats were found at the both ends of the sSMC. Furthemore, the results of aCGH and qPCR indicate the presence of interstitial 8.9 Mb duplication at 12p13.1-p12.1 within the sSMC, which leads to different representations of DNA from different segments of 12p within cells containing sSMC. The obtained data raise the question of the instability of the sSMC and, as a consequence, the possible presence of additional rearrangements, which, in traditional cytogenetic analysis of patients with PKS, are usually described as i(12)(p10).

Generation of iPS cell line (ICGi040-A) from skin fibroblasts of a patient with ring small supernumerary marker chromosome 4.

Human induced pluripotent stem cell (iPSC) line, ICGi040-A, was obtained from skin fibroblasts derived from a male patient with mosaic ring small supernumerary marker chromosome 4 (sSMS(4)) and infertility. ICGi040-A cells have karyotype 47,XY,+r(4) in 97% of cells and express a set of pluripotent markers, as well as are able to differentiate in vitro into derivatives of all three embryonic germ layers.

[Therapy of perinatal brain injury outcomes: results of a multicenter double-blind placebo-controlled randomized study of tenoten for children (liquid dosage form)]. / Terapiya posledstvii perinatal'nogo porazheniya tsentral'noi nervnoi sistemy: rezul'taty mnogotsentrovogo dvoinogo slepogo platsebo-kontroliruemogo randomizirovannogo klinicheskogo issledovaniya zhidkoi lekarstvennoi formy preparata Tenoten detskii.

OBJECTIVE: To evaluate the efficacy and safety of tenoten for children (a novel liquid pediatric formulation) in the treatment of perinatal brain injury (PBI) outcomes. MATERIAL AND METHODS: The multicenter double-blind placebo-controlled randomized trial enrolled 184 children (aged 29 days-9 months) with the total score 12-27 according to Djurba-Mastukova scale and the level of physical development 25-75 centiles. Patients were randomized into tenoten (10 drops per day) and placebo groups. Treatment period was 12 weeks ± 5 days. Percentage of patients with ≥4 points improvement according to Djurba-Mastukova scale (responder rate) was used as a primary efficacy endpoint. RESULTS AND CONCLUSION: Patients in the tenoten group had a significant result on primary efficacy endpoint: 77.5% of participants responded to therapy (p=0.02 vs. placebo). In addition, the safety of tenoten for children in the treatment of PBI outcomes is shown. Tenoten for children (a novel liquid pediatric formulation) has been shown to be an effective medication in treatment of PBI outcomes that helps to achieve therapeutic results with minimal side-effects, good tolerability and the high level of adherence to therapy.