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  • Author: Eusebiu Vlad Gorduza x
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Demetra Socolov, Elena Mihălceanu, Diana Popovici, Eusebiu Vlad Gorduza, Raluca Balan, Violeta Martiniuc and Răzvan Socolov

Abstract

Triploidy is a numerical chromosomal anomaly characterized by the presence of three sets of haploid chromosomes. The incidence is hard to evaluate, because usually it causes 1st trimester miscarriage. At 20 weeks of amenorrhea the incidence of triploidy is estimated at 1/250,000 cases. We present 4 cases of triploidy diagnosed during the decade 2003-2013 in the Prenatal Diagnosis Department of Maternity “Cuza-Vodă” Iasi, Romania, all registered in one year. The analysis of pathological cases identified in the last 11 years by prenatal diagnosis has shown that triploidies represented only 5.7% of numeric chromosomal anomalies, but in 2013 the four cases of triploidy represented 36% of numeric chromosomal anomalies. The karyotypes were recommended after discovering different congenital anomalies by ultrasound scan. In all cases, an intrauterine growth retardation (IUGR) was present but with no placental changes. Also, we discovered anomalies of limbs, congenital anomalies of heart and some dysmorphic features. This series demonstrates that triploidy may be discovered in the 2nd trimester of pregnancy and has a heterogeneous aspect at ultrasound scan, which can generate diagnostic difficulties. Therefore, the detection by ultrasound scan, at 18-22 weeks of pregnancy, of complex foetal morphological abnormalities should be an important reason for amniocentesis to search chromosomal anomalies

Open access

Roxana Popescu, Angela Dăscălescu, Cătălin Dănăilă, Doramina Ghiorghiu, Mihaela Zlei, Anca Ivanov, Adriana Sireteanu, Eusebiu Vlad Gorduza and Doina Azoicăi

Abstract

The coexistence of t(9;22) and inv(16) has been described in a very limited number of cases of CML, de novo or therapy-related AML. We report a patient with CML who presented both inversion of chromosome 16 and Philadelphia chromosome and evolved towards the blast phase under treatment with Imatinib. Laboratory diagnosis and monitoring was made by flow cytometry, conventional cytogenetics and molecular genetics techniques. The inv(16), detected by karyotyping in the Philadelphia chromosome positive clone at the moment of the blast transformation, was retrospectively assessed by means of real-time PCR, and was proved to have been present since diagnosis. The bone marrow biopsy performed in the blast phase of CML confirmed the presence of blasts belonging to the myeloid lineage, with indications of monocytic differentiation, frequently associated with inv(16). Moreover, the case also associated a F359V tyrosine kinase domain mutation, resulting in intermediate resistance to Imatinib and Nilotinib, which imposed therapy-switch to Dasatinib. In our case the evolution was progressive, followed by death due to lack of response to tyrosine kinase inhibitors, 18 months after diagnosis. The coexistence of t(9;22) and inv(16) in CML seems to be associated with an aggressive clinical evolution and resistance to tyrosine kinase inhibitor therapy. Due to the very small number of cases described in literature, therapeutic decisions are still difficult for patients displaying these abnormalities

Open access

Adriana Sireteanu, Roxana Popescu, Elena Emanuela Braha, Cornel Bujoran, Lăcrămioara Butnariu, Lavinia Caba, Elena Graur, Eusebiu Vlad Gorduza, Mihaela Grămescu, Iuliu Cristian Ivanov, Monica Pânzaru and Cristina Rusu

Abstract

Intellectual disability (ID) is a common disorder, with major consequences for individual, family and society. Due to clinical and genetic heterogeneity of ID, in about 50% of cases an etiologic diagnosis cannot be established. The aim of this study was to evaluate the ability of a combination of MLPA kits to establish the diagnosis in 369 patients with syndromic ID and normal or uncertain routine karyotype results. All patients were assessed for chromosome imbalance using SALSA MLPA P064 or P096 kits, if the phenotype was suggestive of a microdeletion syndrome (subgroup A - 186 patients), or subtelomeric P036 and P070 kits, if the phenotype was not suggestive of a microdeletion syndrome or if the result of the standard karyotype was uncertain (subgroup B - 183 patients). Abnormal results detected by these kits were further characterized using appropriate follow-up MLPA kits (Telomere Follow-up set, P029-A1, P250-B2, ME028-B1). In subgroup A we identified 25 patients with microdeletions (13.4%). Using subtelomere screening and follow-up kits in subgroup B we detected cryptic rearrangements in 7.5% cases and identified the origin of the unknown material noticed in the standard karyotype in 10 out of 11 patients. Summarizing data from the two groups, the combined use of MLPA kits led to the diagnosis in 10.6% (38/358) patients with normal karyotype. Using follow-up MLPA kits allowed us both to confirm abnormalities and to determine their size, which facilitated the interpretation of the clinical significance of these rearrangements. For laboratories that do not have yet access to microarray technology, using several MLPA kits represents an effective strategy for establishing the diagnosis in ID patients.