Growth and development in humans begin at conception, which shows progress interdependence. Normal children show the characteristic of growth development. In with disorder, chromosomal abnormality may be found. This study aimed to determine patients disorder. The samples were taken from karyotype results Medical Genetics Laboratory, Faculty Medicine, Universitas Wijaya Kusuma Surabaya, 2010-202...

The chromosomal disorders are individually rare, but collectively they are common whereas the multifactorial disorders are the most common form of genetic disorders. The chromosomal anomalies typically arise from alterations in the DNA containing chromosomal regions and can be reliably detected by karyotype analysis, whereas the multifactorial disorders demonstrate multi-gene as well as environ...

Ring chromosomes are rare chromosomal disorders that usually appear to occur de novo. A ring chromosome forms when due to deletion both ends of chromosome fuse with each other. Depending on the amount of chromosomal deletion, the clinical manifestations may be different. So, ring 18 syndrome is characterized by severe mental growth retardation as well as microcephaly, brain and ocular malformat...

Infertility in humans is surprisingly common occurring in approximately 15% of the population wishing to start a family. Despite this, the molecular and genetic factors underlying the cause of infertility remain largely undiscovered. Nevertheless, more and more genetic factors associated with infertility are being identified. This review will focus on our current understanding of the chromosoma...

Chromosomal aberrations, and their associated syndromes of dysmorphism and malformations of multiple organ systems, have been long recognized as significant causes of severe mental impairment. With a few major exceptions, these clinical syndromes have only recently been catalogued as systematically ( 1, 2) as have been single-gene disorders. The neuropathologic features of many of these syndrom...

GENETIC DISORDERS ARE TRADITIONALLY CATEGORIZED INTO THREE MAIN GROUPS: single-gene, chromosomal, and multifactorial disorders. Single gene or Mendelian disorders result from errors in DNA sequence of a gene and include autosomal dominant (AD), autosomal recessive (AR), X-linked recessive (XR), X-linked dominant and Y-linked (holandric) disorders. Chromosomal disorders are due to chromosomal ab...

Epilepsy is among the most common findings associated with chromosome aberrations, particularly those involving autosomal chromosome imbalances. Most chromosome aberrations can be associated with different seizure types, but there are a few aberrations featuring specific seizure and electroencephalographic (EEG) patterns. The analysis of electro-clinical patterns associated with chromosomal abe...

background: recurrent miscarriage is defined as two or more recurrent spontaneous miscarriages. several causes have been suggested, among which, chromosomal abnormalities in couples is considered to have a role in this regard. however, its significance varies among different populations. the present study was carried out to evaluate the prevalence of chromosomal aberrations in couples with recu...