Turner syndrome is one of the most common chromosomal abnormalities affecting newborn females. More than half of patients with Turner syndrome have a 45X karyotype The rest of the patients may have structurally abnormal sex chromosomes or are mosaics with normal or abnormal sex chromosomes. Mosaicism with a second X sex chromosome is not usually of clinical significance. However, Turner syndrome patients having a second Y chromosome or Y chromosomal material are at risk of developing gonadoblastoma later in life. The aim of this study is to compare the results of conventional (karyotyping) and molecular cytogenetics (FISH), and discuss the advantages and limitations in the diagnosis of Turner syndrome. We also aim to compare the degree of mosaicism identified using conventional cytogenetics and FISH techniques. Conventional cytogenetics and FISH analyses were performed on eight peripheral blood samples of patients with Turner syndrome collected between 2004 and 2006. From this study, two out of eight patients with Turner syndrome were found to have the sex determining region on the Y chromosome (SRY) gene by FISH analysis. Our results showed that the rate of detection of mosaic cases in Turner syndrome was also increased to 88% after using the FISH technique. We concluded that FISH is more superior to conventional cytogenetics in the detection of the Y chromosomal material. FISH is also a quick and cost effective method in diagnosing Turner syndrome and assessing the degree of mosaicism.
Morbidly adherent placenta with spontaneous rupture of membrane at extreme prematurity poses poor pregnancy outcome. Various issues on different management modalities still remain perplexed and individual consideration is vital. Two cases of morbidly adherent placenta with symptomatic per vaginal bleeding and spontaneous rupture of membrane at severe prematurity were reviewed and discussed. We found that, active intervention by termination of pregnancy and methotrexate therapy at early gestation can prevent the need of hysterectomy following major obstetrics haemorrhage.
The Rohingya is a group of refugees from Myanmar who have been residing in Malaysia since the 1980s. At present, there is no published information on health and nutritional status of refugee children
in Malaysia. This study was conducted to assess nutritional status of the Rohingya children aged
6 months to 12 years old (N=87) and to determine the associations between nutritional status with
socio-demographic, dietary diversity and health (birth weight, immunization and childhood illness)
variables. Children were measured for weight and height while their guardians were interviewed for
socio-demographic, dietary diversity and health information. About 27.5% of the Rohingya children
were underweight, 11.5% stunted, 16.1% thin and 12.6% at risk of overweight and overweight. The
percentage of children with low birth weight (< 2.5 kg) and no immunization was 17.8% and 11.5%,
respectively. Fever (67.8%) and flu (62.1%) were the most common childhood illnesses reported in
previous month with 44-75% of the children with these illnesses did not receive any medical treatment.
The mean dietary diversity score was 8.9+3.2 out of a possible 14, with a higher score indicating a
more diverse diet. There were significant correlations between frequency of immunization received
by the children with weight-for-age-z score (rs=0.27, p
A case of haemoglobin H (HbH) disease associated with pregnancy is presented and discussed in the light of reports in the literature. The variable symptomatology is commented upon, although mild to moderate chronic haemolytic anaemia seems to be a constant feature. The roles of folic acid supplements and of splenectomy; the avoidance of oxidant drugs, and the mode of inheritance in HbH disease are briefly commented upon. Available reports indicate that HbH disease probably has no adverse effect on pregnancy. However, the association of the two conditions is uncommon, and reports are too few, therefore, to allow definite conclusions on the outcome in all instances.