https://www.um.edu.mt/library/oar/handle/123456789/15047 Sun, 12 Apr 2026 04:28:42 GMT 2026-04-12T04:28:42Z https://www.um.edu.mt/library/oar/handle/123456789/15448 Title: Tuberous sclerosis associated with multiple hepatic lipomatous tumours Authors: Vella, Cecil; Calleja Stafrace, Damien Abstract: Tuberous sclerosis is a genetic multisystem disorder characterised by widespread hamartomas in several organs, including brain, heart, skin, eyes, kidney, lung and liver. Hepatic multiple angiomyolipomas (AML’s) are a rare and usually asymptomatic complication in patients with tuberous sclerosis. We present such a case. We report a 15 year old girl with tuberous sclerosis who was noted to have multiple AML’s of the liver and kidneys found on routine ultrasound screening. She was asymptomatic at this stage and in view of the small size of the AML’s a repeat ultrasound of the liver and kidneys was performed twelve months later Fri, 01 Jan 2016 00:00:00 GMT https://www.um.edu.mt/library/oar/handle/123456789/15448 2016-01-01T00:00:00Z https://www.um.edu.mt/library/oar/handle/123456789/15441 Title: Y chromosome in turner syndrome : a case report Authors: Taliana, Nikita; Grech, Victor E.; DeGiovanni, Joseph V.; Said, Edith Abstract: In man, the Y chromosome spans approximately 58 million base pairs and represents just 1% of the total DNA in a male cell.1 Sex is determined in the SRY locus on the Y chromosome. During the formation of gametes, chromosomal crossover between homologous chromosomes during the meiotic division results in genetic diversity. Genetic recombination can also repair damaged genes. Recombinations between the two X chromosomes for self-repair is possible in females but is not possible for the Y chromosome since this chromosome is present in isolation in the male. This has led to the hypothesis that the Y chromosome may one day become extinct due to cumulative and unrepaired damage.2 This has occurred, for example, in the Transcaucasian mole vole which does not have an SRY gene or Y chromosome, with both sexes possessing a XO sex chromosome only. Indeed, in this species, sex determining genes are found on a different chromosome. In Turner syndrome, the affected individual has one X chromosome, with an absent sex chromosome. It had been assumed that the missing chromosome is an X chromosome, but this may not be the case. It is now proposed that this condition may be caused by a paternal unstable isodicentric Y during the formation of germ cells, such that the Y chromosome is the missing chromosome.5,6 Evidence for this includes the absence of an increased incidence of Turner’s syndrome with increasing maternal age, along with the fact that the X chromosomes present in Turner syndrome are 74% maternally derived. Here the authors present a case of mosaic Turner’s syndrome, i.e. a patient with two cell lines, 45X and the other with 46 chromosomes, one of which was an isodicentric Y chromosome. Fluorescence in situ hybridization (FISH) showed that the SRY locus is present on the Y chromosome in this phenotypical female patient. Fri, 01 Jan 2016 00:00:00 GMT https://www.um.edu.mt/library/oar/handle/123456789/15441 2016-01-01T00:00:00Z