Cytogenetics

Clonal abnormalities were defined as two or more cells with the same chromosomal gain or structural rearrangement or at least three cells with the same chromosome deletion. Karyotypes were recorded according to the International System for Human Cytogenetic Nomenclature (ISCN) 2013.14 In addition, fluorescence in situ hybridization (FISH) was performed in most cases (n = 158). The following commercial FISH probes were used in subset of patients: a BCR/ABL dual-color, dual-translocation probe (n = 158);

Even if the percentage for hormonal and gonadal abnormalities is more compared to chromosomal abnormalities in SA, cytogenetic investigation is a must. The percentage of total CA (16%) in SA of the present study will hold good with previous studies which vary from 5 – 33.3% and pure numerical abnormalities (45,X; 47,XXX) could not be observed (table 3). The CA observed was only X mosaicism in two of the studies (gupta, Butnarui) as compared to present study (16/43%). The percentage for X mosaicism

CHROMOSOMAL ABNORMALITIES A) NUMERICAL CHROMOSOME ABNORMALITIES 1) Klinefelter Syndrome This syndrome was first described by Harry Klinefelter in 1942 as a clinical condition with small testes, azoospermia, gynecomastia and an elevated serum FSH. (56) Only in 1959 was the chromosomal basis of the disorder described. Subsequently the diagnosis of Klinefelter syndrome has required the demonstration of the 47,XXY karyotype or one of its rarer variants. (57) The prevalence of Klinefelter syndrome appears

TERM PAPER EVALUATION ON CHROMOSOMAL ABBERATIONS AND DOWN SYNDROME GUIDED BY: SUBMITTED BY: Dr. SANJEEV KUMAR (Sr.) SHRUTI DHAMEJA BSM/13/104 B.Sc (H) MEDICAL BIOTECH DECLARATION I hereby declare that the term paper entitled “CHROMOSOMAL ABBERATIONS AND DOWN SYNDROME” submitted to AMITY INSTITUTE OF BIOTECHNOLOGY, is a record of an original work done by me under the guidance of Dr. SANJEEV KUMAR (Sr.) and this project work has not performed

The earliest depiction of a person with Down syndrome was dated in 1515 in a Flemish painting. Doctor John Langdon Down described Down syndrome as a disorder in 1866, however he misunderstood on how the syndrome first came about. The cause to Down syndrome was discovered recently in 1959 as being the common cause of cognitive impairments. All individuals who contain down syndrome show symptoms of mild to moderate learning disability, distinctive facial features, and hypotonic in early infancy. Down

How Individuals with Down Syndrome can Prosper in Life Roger is a handsome blonde, blue-eyed boy but one can tell he is different from most other children.  His physical features are somewhat strange.  Roger's face is broader and his nasal bridge flatter than usual.  And his eyes, they appear to slant upward and have folds at the inner corners.  His mouth is small and the roof of his mouth is very narrow.  Not to mention his small ears which fold over a bit at the top.  Touching his hands they

INTRODUCTION Congenital Heart Defects (CHDs) include all structural anomalies of the heart and the intrathoracic great vessels resulting from the errors in morphogenesis, during development. The incidence of CHDs among live births is estimated to be 3.7 to 7.7 per 1000 (Ferencz et al. 1985). CHDs are etiologically heterogenous and it could be due to genetic (single gene defects, chromosomal abnormality) and or environmental (multifactorial, teratogens) or unknown factors (Michels and Ricardi

higher priority with treatment based on severity. Clinical Perspective History In 1656, Thomas Bartholin described developmental birth defects characteristic to those present in newborns diagnosed with T13, only in that time is referred to as cytogenetic syndrome. It wasn’t until 1960 that German physician Klaus Patau discovered the underlying genetic cause by looking at the

Edward’s Syndrome or also known as Trisomy 18 is a very serious and uncommon disorder, and there are three types of this disorder: Full, Partial, and Mosaic Trisomy 18. Trisomy 18 is a chromosomal condition that affects not only one part of the body, but usually many different limbs. Five to ten percent of the individuals with this disorder can live their lives with it, but they have to deal with severe disabilities. Since Edward’s Syndrome is not common, there are only a few solutions for the

Trisomy 13, or Patau Syndrome, is caused by the presence of three chromosome copies on chromosome 13. An extra copy of chromosome 13 causes the majority of cases. Some cases are caused by a Robertsonian translocation between chromosome 13 and other autosomes such as chromosomes 15, 21, and 22. According to Bishra & Clericuzio "Trisomy 13 is the third most common autosomal trisomy, with an incidence of 1 per 10,000" (Bishara & Clericuzio, 2008, p. 30). It is comprised mainly of defects of the