question in chromosomal study

[dr.moz]

alot of married couples come to the lab asking to do chromosomal study becouse they have a repeated abotion also alot of people come to the lab to do that test as a premarital check up so im asking can chrmosomal study help those people also can it detect congenital diseases ( for the person himself) other than down syndrome , turner syndrome , kleinfilter syndrome , pseudohermaphrodite .. thanks and happy eid

[soma]

do u mean prenatal test for fetus ???i

[soma]

=]if u mean it


Prenatal diagnostic testing involves testing the fetus before birth (prenatally) to determine whether it has a certain hereditary or spontaneous genetic disorder.

The most common tests used to detect abnormalities in a fetus include ultrasonography, chorionic villus sampling, amniocentesis, and percutaneous umbilical blood sampling.

Most of these tests are offered primarily to couples with an increased risk of having a baby with a genetic abnormality (particularly neural tube defects) or a chromosomal abnormality (particularly when the woman is aged 35 or older



Some Genetic Disorders That Can Be Detected Before Birth

Cystic fibrosis
Congenital adrenal hyperplasia
Duchenne's muscular dystrophy
Hemophilia A
Alpha- and beta-thalassemia
Huntington's disease
Polycystic kidney disease adult type
Sickle cell anemia
Tay-Sachs disease [/

[dr.moz]

No soma i didnt mean that i mean chromosomal examination ( cytogentic study ) not the the one you mention ...

[soma]

i mean that this samples (chorionic villus sampling, amniocentesis,
and percutaneous umbilical blood sampling)are taken to make the chromosomal study

check this file

i hope i understand ur question
.

[dr.moz]

G- banding in peripheral blood ( in my lab the sample is taken in heparin vaccutainer and we send it outside and the result come to us after 20 days in normal male 46 XY and normal female 46 XX . i want to know this technique G- banding of peripheral blood help in what to diagnose ..thanks soma for trying to help

[الواقع والحياد]

السلام عليكم dr.Moz ...

I am sorry for this delay…… but actually I didn't have enough experience in cytogenetics lab ….



Abnormalities that can be detected by cytogenetics

Translocations

Deletions

Inversions

Numerical aberrations

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GTL-Banding


GTL-Banding or just "G-Banding" stands for Giemsa/Trypsin/Leishman banding. This method of staining devised by Dr. Giemsa uses typsin to partially digest the proteins holding the chromosomes together (histones). This lets the chromosome relax, letting the Leishman stain bind to the exposed DNA.

The resulting bands are specific to each chromosome and the order and size of the band lets cytogeneticists distinguish and compare homologous pairs of chromosomes

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http://www.slh.wisc.edu/wps/wcm/connect/extranet/cytogenetics/index.php


http://www.labtestsonline.org/understanding/features/genetics-8.html

http://www.slh.wisc.edu/wps/wcm/connect/extranet/cytogenetics/procedures/g-banding/index.php

http://members.aol.com/chrominfo/geninfo.htm


http://www.ucl.ac.uk/%7Eucbhjow/bmsi/bmsi_7.html


http://www.wellscenter.iupui.edu/MMIA/htm/animations.htm

[dr.moz]

Thanks you sir for these nice sites it realy help me to understand and as i mention from the start they give a little help in other cytogentic problems other than what i mention before but now i got the full picture thanks and also thanks soma for trying to help ...god bless you both