Road to A Rare Diagnosis: A Case Report Exploring Phenotype, Clinical Management and Outcome of a Rare and Novel Unbalanced Translocation causing complete Trisomy 17p

Background: Trisomy 17 is a rare chromosomal disorder with limited existing literature that mostly refer to mosaic Trisomy 17 cases. Our report summarizes the clinical course of a neonate with a Trisomy 17 karyotype der (14;17) (q10; p10), + 17 pat. Key words: Trisomy 17, Unbalanced translocation, Paternal origin

Transient Myeloproliferative Disorder as the Presenting Feature for Mosaic Trisomy 21

Trisomy 21 is a common congenital disorder with well documented clinical manifestations, including an increased risk for transient myeloproliferative disorder as a neonate and leukemia in childhood and adolescence. Children with mosaic trisomy 21 can have a similar risk for hematological malignancies. We present a non-dysmorphic neonate, with negative noninvasive prenatal screening of maternal blood for trisomy 21, who came to medical attention because of ruddy skin. He was found to have mild polycythemia, thrombocytopenia and developed peripheral blasts. His clinical presentation was concerning for transient myeloproliferative disorder, which is only seen in trisomy 21 patients. Cytogenetic studies were positive for mosaic trisomy 21.

Laryngotracheomalacia in a Patient with Mosaic Trisomy 8

Mosaic trisomy 8 is a condition characterized by a great phenotypic and cytogenetic variability whose incidence ranges around 1 in 25,000 to 50,000 live births. Here, we report a mosaic trisomy 8 patient presenting laryngotracheomalacia, an uncommon finding, analyzing its possible role over morbidity, and mortality. The patient was a boy who, after birth, had tachypnea and paleness. He presented periods of respiratory dysfunction with need of ventilatory support. Respiratory syncytial virus test was positive. Naso fibrobronchoscopy showed moderate laryngotracheomalacia. He also had recurrent episodes of pneumonia and difficulty in withdrawing continuous positive airway pressure. The patient also presented leucoma, abnormal and low-set ears, pectus excavatum, clenched fists with overlapping fingers, cryptorchidism, clubfeet, and deep longitudinal plantar creases. G-bands by Trypsin using giemsa (GTG-banding) karyotype from a peripheral blood sample revealed a mosaic trisomy 8: mos 47,XY, + 8[15]/46,XY[7]. At 4 months, the patient developed respiratory failure, and a chest computed tomography scan showed areas of atelectasis and gross fibroatelectatic striae. He ended up presenting clinical worsening and died at 4 months and 8 days. In our literature review, we found some reports describing patients with mosaic trisomy 8 and laryngotracheomalacia. However, we cannot rule out the possibility that this association could be casual, since laryngotracheomalacia is a relatively common finding in children. Therefore, more studies are still necessary to understand the possible relation between both conditions and the role of laryngotracheomalacia over morbidity and prognosis of mosaic trisomy 8 patients.

Additional Evidence for Neuropsychiatric Manifestations in Mosaic Trisomy 20: A Case Report and Brief Review

Mosaic trisomy 20 is a genetic condition in which three chromosomes 20 are found in some cells. Its clinical phenotype seems to be highly variable, with most features not reported across all individuals and not considered pathognomonic of the condition. Limited and recent evidence indicates that neuropsychiatric manifestations may be more present in the context of trisomy 20 than was once thought. Here, we present a case of a 14-year-old female adolescent of White/Caucasian ethnicity with mosaic trisomy 20, who was admitted twice to an inpatient Child and Adolescent Neuropsychiatry Unit for persisting self-injury and suicidal ideation. A severe and complex neuropsychiatric presentation emerged at the cognitive, emotional, and behavioral levels, including mild neurodevelopmental issues, isolation, socio-relational difficulties, depressed mood, temper outbursts, irritability, low self-esteem, lack of interest, social anxiety, panic attacks, self-cutting, and low-average-range and heterogeneous intelligence quotient profile. Particularly, the patient was considered at high risk of causing harm, mainly to self, and appeared to be only partially responsive to medication, even when polypharmacy was attempted to improve clinical response. Except for school bullying, no other severe environmental risk factors were present in the patient’s history. The patient received a diagnosis of disruptive mood dysregulation disorder.

Congenital Acute Lymphoblastic Leukemia – A Mosaic Trisomy Chromosome 22 and t(5;15)(p15;q15) : A Case Report

Neonatal leukaemia is a rare blood cancer occurring in baby less than 30 days of life is characterized by proliferation of white cells without known and obvious reasons. We report a case of a 7-day- old girl diagnosed with congenital leukaemia. At the time of presentation, she was evaluated as early neonatal sepsis. However, her laboratory investigations were consistent with B cell acute lymphoblastic leukaemia. Her cytogenetic analysis showed 46 XX trisomy 22, t(5,15) (p15,q15) and del 7 (q33,q35). She was managed with standard Interfant 06 protocol and had achieved marrow remission during the course of chemotherapy. Our case highlights the differentiation between lymphocytic leukemoid reaction and lymphoblastic malignant cells and also congenital acute lymphoblastic leukaemia who had a good outcome from the chemotherapy.