MLS 007: 1- HISTORY OF CYTOGENETICS - WEEK 2

Hsu and pomerat

Reported the "hypotonic shock" procedure

The observation that Turner syndrome, Klinefelter syndrome, and putative XXX patients had 0, 1, and 2 Barr bodies

Elucidated the mechanism of sex determination in humans, confirming for the first time that it is the presence or absence of the Y chromosome that determines maleness, not merely the number of X chromosomes present, as in Drosophila.

Torbjörn Caspersson

• Observed that when plant chromosomes were stained with fluorescent quinacrine compounds, they produced a series of bright and dull areas across the length of each chromosome.

• Produced and reported a unique "banding" pattern for each human chromosome pair

Chromatin

Flemming referred it as the stainable portion of the nucleus

Ford et al.

Reported that females with Turner syndrome have 45 chromosomes, apparently with a single X chromosome and no Y

Waardenburg

Made the suggestion that Down syndrome could perhaps be the result of a chromosomal aberration

Patau et al.

Patau's syndrome or "D trisomy"

In the edition of The Lancet, ________ described two similar infants with an extra "D group" chromosome who had multiple anomalies quite different from those seen in Down syndrome.

It became known as __________

Nowell and Hungerford

Reported the presence of the "Philadelphia chromosome" in chronic myelogenous leukemia, demonstrating, for the first time, an association between chromosomes and cancer

Lyon

Developed single active X chromosome mechanism of X-dosage compensation in mammals

Von Winiwarter

Concluded that men have 47 chromosomes and women have 48

Walther Flemming

- An Austrian cytologist and professor of anatomy, who published the first illustrations of human chromosomes in 1882

- The first person to use the term mitosis

Edwards et al.

E trisomy

Described "A New Trisomic Syndrome" in an infant girl with yet another constellation of phenotypic abnormalities and a different autosomal trisomy

It became known as __________

46

According to Levan and Tjio the human diploid chromosome number is?

Hsu

Demonstrated the value of the tissue culture technique by using it to examine human embryonic cell cultures

Sutton

- Developed the "chromosome theory of inheritance"
- Combined the disciplines of cytology and genetics when he referred to the study of chromosomes as cytogenetics

Drets and Shaw

Described a method of producing similar chromosomal banding patterns using an alkali and saline pretreatment followed by staining with Giemsa, (compound developed for identification, in blood smears, of the protozoan that causes malaria)

- Isotonic saline

- Hypotonic solution

The well-spread metaphases were the result of an accident. Instead of being washed in _________the cultures had been washed in __________causing water to enter the cell via osmosis, which swelled the cell membranes and separated the chromosomes, making them easier to visualize

48

46

In 1923, Painter definitely reported the human diploid chromosome number to be ________. 2 years earlier he primarily reported a diploid number of ______

Alkali, saline pretreatment and Giemsa

Drets and Shaw used these in producing a similar chromosomal banding patterns so human chromosome could be positively identified.

Hsu

Reported that rather than depending on histologic sections, examination of chromosomes could be facilitated if one studied cells grown with tissue culture techniques by FISHER

situ hybridization (FISH)

Molecular cytogenetics utilizes the techniques of fluorescence in

Female with sexual dysfunction by Jacobs

They have 47 chromosomes and was believed to have an XXX sex chromosome complement

Lyon hypothesis

The single active X chromosome mechanism of X-dosage compensation in mammals has been known as?

Ford and Hamerton

- They modified the hypotonic shock technique

- They also worked out a method for pretreating cells grown in the culture with COLCHICINE to destroy the mitotic spindle apparatus and thus accumulate in the dividing of cells in the metaphase

Lejeune et al.

Reported that three infants with the CRI DU CHATt ("cat cry") syndrome of phenotypic anomalies, which includes severe mental retardation and a characteristic kitten-like mewing cry, had a deletion of the short arm of a B-group chromosome, designated as chromosome 5

Joe Hin Tjio,

An American-born Indonesian that learned about the procedures and worked with Hamerton and Ford to further improve upon them.

- human embryonic cell cultures

- mitotic metaphase drawing

- ideogram (9) of all 48 human chromosomes

Hsu demonstrated the value of Fisher's technique by using it to examine _________, from which he produced both_____________and an ____________

Joe Hin Tjio, and Levan

They learned and optimized colchicine and hypotonic method method for these cells and diplomatically reported that the human diploid chromosome number appeared to be 46, not 48

Cytogenetics

Sutton combined the disciplines of cytology and genetics and referred to the study of chromosomes as?

Karyotype

It refers to the ordered arrangement of chromosomes

"hypotonic shock" procedure

The name of the accident that unlocked the future of human cytogenetics where hypotonic solution caused the water to enter the cells via osmosis, which swelled the cell membranes and separated the chromosomes, making them easier to visualize

Philadelphia chromosome"

Its presence in chronic myelogenous leukemia, demonstrate an association between chromosomes and cancer

kidney bean extract phytohemagglutinin

Nowell introduced its use as a mitogen permitting a peripheral blood sample to be used for chromosome analysis that eliminated the need for bone marrow aspiration

trisomy

Was reported to involve one of the smallest pairs of chromosomes and would eventually be referred to as _______

Painter

- He studied (meiotic) chromosomes derived from the testicles of several men who had been incarcerated, castrated and ultimately hanged in Texas State Insane Asylum-primarily

-Proposed the X and Y sex chromosome mechanism in man

1900

Year of the "rediscovery" of Mendelian inheritance

Sex chromatin

Inactivated X chromosome present in nucleated cells of all normal female mammals but absent in normal males

Levitsky

Formulated the term karyotype to refer to the ordered arrangement of chromosomes

- He observed that the kidney bean extract phytohemagglutinin stimulated lymphocytes to divide

- He Introduced its use as a mitogen permitting a peripheral blood sample to be used for chromosome analysis that eliminated the need for bone marrow aspiration

46

According to Levan and Tjio the human diploid chromosome number is?

Chromosome

It is a greek word for "colored body"

Lejeune

- Studied the chromosomes of fibroblast cultures from patients with Down syndrome and described an extra chromosome in each of these cells

- With his findings, he had proved Waardenburg's hypothesis by reporting the first example of a chromosomal syndrome in man

- In December 1962, he received one of the first Joseph Kennedy Jr. Foundation International Awards for his work

Waldeyer

He introduced the word chromosome

Murray Bar

• He studied fatigue in repeatedly stimulated neural cells of the cat

• Observed a *small stained body on the periphery of some interphase nucle

• His details were detailed enough to make him realized that this was present only in the nuclei of female cats