No abstract available.
Eosinophils* ; Karyotype* ; Myelodysplastic Syndromes*

OBJECTIVES: Diagnosis of Turner syndrome in Malaysia is often late. This may be due to a lack of awareness of the wide clinical variability in this condition. In our study, we aim to examine the clinical features of all our Turner patients during the study period and at presentation.

METHODOLOGY: This was a cross-sectional study. Thirty-four (34) Turner patients were examined for Turner-specific clinical features. The karyotype, clinical features at presentation, age at diagnosis and physiologic features were retrieved from their medical records.

RESULTS: Patients with 45,X presented at a median age of 1 month old with predominantly lymphoedema and webbed neck. Patients with chromosome mosaicism or structural X abnormalities presented at a median age of 11 years old with a broader clinical spectrum, short stature being the most common presenting clinical feature. Cubitus valgus deformity, nail dysplasia and short 4th/5th metacarpals or metatarsals were common clinical features occurring in 85.3%-94.1% of all Turner patients. Almost all patients aged ?2 years were short irrespective of karyotype.

CONCLUSION: Although short stature is a universal finding in Turner patients, it is usually unrecognised till late. Unlike the 45,X karyotype, non-classic Turner syndrome has clinical features which may be subtle and difficult to discern. Our findings underscore the importance of proper serial anthropometric measurements in children. Awareness for the wide spectrum of presenting features and careful examination for Turner specific clinical features is crucial in all short girls to prevent a delay in diagnosis.

The human chromosome analysis is widely used to diagnose genetic disease and various congenital anomalies. Many researches on automated chromosome karyotype analysis has been carried out, some of which produced commercial systems. However, there still remains much room for improving the accuracy of chromosome classification. In this paper, We propose an optimal pattern classifier by neural network to improve the accuracy of chromosome classification. The proposed pattern classifier was built up of multi-step multi-layer neural network(MMANN). We reconstructed chromosome image to improve the chromosome classification accuracy and extracted three morphological features parameters such as centromeric index(C.1.), relative length ratio(R.L.), and relative area ratio(R.A.). This Parameters employed as input in neural network by preprocessing twenty human chromosome images. The experiment results show that the chromosome classification error is reduced much more than that of the other classification methods.
Chromosomes, Human ; Classification* ; Humans ; Karyotype*

Humans ; Karyotype ; Leukemia, Myeloid, Acute

No abstract available.
Bone Marrow* ; Karyotype* ; Leukemia, Promyelocytic, Acute*

Hypoglossia-hypodactylia syndrome is a congenital disease which is characterized by severe micrognathia, hypoglossia and various anomalies of extremities. This was first reported as 'aglossia congenita' back in 1932 by Rosenthal, and has been reported many times ever since, but has never been reported in Korea. Hall first used the term 'hypoglossia-hypodactylia syndrome', and classified it as one of the oromandibular-limb hypogenesis syndromes. According to the studies, most of the cases are sporadic, and this is known to be due to the dominant mutant gene. Etiology is still unknown, but a number of theories have been proposed, such as intrauterine damage and vascular distruptive mechanism. We report a case on hypoglossia-hypodactylia syndrome in a male neonate with karyotype showing 46,XY,t(3;19)(q22;p12) with the review of the associated literatures.
Extremities ; Humans ; Infant, Newborn ; Karyotype ; Korea ; Male

The karyotypes of Biomphalaria tenagophila collected from Rio de Janeiro, Brazil were studied using the air-drying method. Somatic cells of this species had 2n=36. The 18 chromosome pairs were identified and classified into 3 groups. The diploid cell has 7 pairs of metacentric, 8 pairs of submetacentric, and 3 pairs of subtelocentric chromosomes. Observed chromosomes ranged from 2.4 to 6.4 microm, and the total length was 122.3 microm. This is the first report on the chromosome of B. tenagophila.
Animals ; Biomphalaria/*cytology/*genetics ; Brazil ; *Karyotype

No abstract available.
Child* ; Dermatoglyphics* ; Down Syndrome* ; Humans ; Karyotype*

As a series of systematic classification for Korean common liver fluke, Fasciola sp., karyotype was investigated by means of the modified air-drying technique and of the regular Giemsa staining, Also, C-staining method was applied for detailed karyological analysis from the germ cells of the fluke. The following is a brief summary of the leading facts gained through the experiment. Korean Fasciola sp. was classified into three types based on their chromosomal complements; individuals with 20 or 30 chromosomes and with a 20/30 mosaic constitution. Worms having 30 chromosomes represent a triploid form with 3 sets of 10 basic chromosomes, while those with 20 chromosomes were diploid and mosaic individuals were 2n/3n mixoploid. The frequency of the individual type calculated is as follows; 67.45% of 212 flukes examined was of diploid, 10.85%, triploid, and the rest, 21.7%, mixoploid, respectively. In many cases, two or three types were found in the peculiar bovine host while single type inhabitant was about 20% out of 52 cases. The twenty chromosomes consisted of 1 parir of large metacentrics, 4 pairs of medium-sized subtelocentrics, and 5 pairs of small submetacentrics, while constitution of the thirty chromosomes was nearly interpreted as a triploid form with 3 sets of 10 basic chromosomes. The high centromeric indexes of both types are the first pairs among all the examined, and 37.93% was of diploid and 47.93%, triploid, respectively. In mixoploid individuals, constitution of the chromosomes of diploid or triploid cells was the same as that of diploid or triploid individuals. All the chromosomes of the germ cells in both types showed C-band around the centromeic region and especially the chromosomes no's 3, 7, and 8 showed a remarkable C-band distinguished from other chromosomes. The variance for the sizes of the worms and the eggs were not parallel with three different genotypes in Korean common liver fluke.
parasitology-helminth-trematoda ; Fasciola sp. ; karyotype ; taxonomy

As a series of systematic classification of paramphistomes, the worms in the rumen and reticulum were collected on 214 Korean cattle slaughtered at Jeonju abattoir from January 1986 to April 1987 and were classified by means of morphology. Afterwards, the karyotype of Paramphistomum cervi (Zeder, 1790) was detected by means of modified air-drying method from germ cells of the worms. The results were summarized as follows: In the chromosome number of 254 P. cervi, the haploid cell was n=9 and the diploid 2n=18. The meiotic divisions were observed frequently; 1,924 haploid and 32 diploid cells were reliable. Nine pairs of mitotic chromosomes were homologous in the metaphase stage, and the chromosomes were composed of five medium-sized metacentrics (m), subtelocentrics (st) or submetacentrics (sm) and four small-sized subtelocentrics(st) or submetacentrics(sm). Meiotic metaphase was composed of five medium and four small chromosomes in size. As a series of C-banding method, C-band was showed in centromeric region from all of the haploid germ cells. Whereas chromosome No. 3 and 5 included heterochromatin on the tip region, chromosome No. 4 on the distal region and No. 6 proximal region. And chromosomes No. 2 and 8 showed a remarkable C-band distinguished from other chromosomes.
parasitolgy-helminth-trematoda ; Paramphistomum cervi ; karyotype