Partial Trisomy 9q is a unique chromosomal anomaly with a distinctive phenotype. Only 5 cases have been reported in the literature till now. A large family with four affected children was studied in detail and was compared with the five previously reported cases. Determination of this novel balanced translocation in their family had helped us to offer prenatal diagnosis. This presentation is un...

The presence of 47 chromosomes in mongoloids, due to the trisomy of a small acrocentric chromosome in the 21-22 group (Denver system) was demonstrated by Lejeune et al. 1 1 in 1959, and since that time has been confirmed by numerous authors (Beçak 2 ) . The production of this trisomy is explained by a defect in the process by which the homologous chromosomes or sister chromatids should dislocat...

The paper deals with an analysis of digito-palmar dermatoglyphics with the parents of 54 children with Trisomy 21 (Down Syndrome) studied before [15]. The results obtained confirm the data found in the foreign specialised literature according to which many of the dermatoglyphic malformations present at children with Trisomy 21 can also be found to their apparently healthy parents but in a small...

Approximately 10-15% of all pregnancies end in spontaneous abortions. Many factors can lead to embryonic loss; however, it has been well established that over 50% of all miscarriages result from chromosomal abnormalities, primarily aneuploidies (>96%). Identifying the cause of miscarriage can significantly reduce the psychological stress in women, and enable better genetic counseling for a futu...