YTOGENETICS CASE REPORT(KARYOTYPING REPORT OF MRS KERR)

REQUEST WRITER 11889 TO ATTEND TO THIS ORDER PLEASE

CYTOGENETICS CASE REPORT(KARYOTYPING REPORT OF MRS KERR)

REASON FOR REFERRAL; Maternal age 39years”
SAMPLE ; amniontic fluid from pregnant mrs kerr.

QUESTIONS/INSTRUCTIONS.

I have already karyotyped the G-banded metaphase from mrs kerr amniontic fluid sample(see attached document) and described it using the ISCN nomenclature which is 46,XX,t(4;11)(q21;p13) and this is shown in the uploaded document attached with this order.I will appreciate if u do take a look at the uploaded karyotype and help me confirm if the ISCN name is correct and if not then help make the correction.
As always, references must be cited in text, no direct quotations from authors and not more than 1000 words(excluding diagrams and references) but preferably 3 pages.
Questions that might be considered for this case study but not necessary in the order they re presented.Remember that not all questions might be relevant to this case.For any suggested further analyses or follow-up for the samples,please make clear the order in which you would do these(if appropriate).

QUESTIONS

1. what further staining/banding techniques might be informative in order to fully characterise this case and why?which ones would you restrict yourself to in a diagnostic setting?

2. what follow-up studies are required and what would your action be depending on the outcome of these studies?

3.how might any follow up studies you carry out affect the risk you would report for mental retardation(learning difficulties)?

THE NEXT 2 QUESTIONS ASSUME THAT A CARRIER OF THE CHROMOSOME ARRANGEMENT YOU HAVE FOUND IS AT REPRODUCTIVE AGE

4.for a carrier of this arrangement,draw out the theoretical meiotic segregations of this structural abnormality and for each of the possibilities,suggest the likely outcome of the pregnancy.

5.for a carrier of this chromosome rearrangement,what are the differences between the theoretical risks of producing unbalanced offspring and the actual risks?why are these two risks different?would there be any difference in the risks quoted for the outcome depending on whelther this rearrangement was carried by a male or a female?

6. write a report to the referring clinician with respect to the amniontic fluid sample.

RECOMMENDED TEXTS

1. CHROMOSOME ABNORMALITIES AND GENETIC COUNSELLING; gardner and sutherland, oxford university press ISBN 0-19-510615-6
clinical approach text covering chromosome abnormalities.

2.HUMAN CHROMOSOME,STRUCTURE,BEHAVIOUR AND EFFECTS; Eeva therman,springer verlag ISBN 0-387-97871-2 ISBN 3-540-97871-2. a good general theoretical text

3.HUMAN CYTOGENETICS.A PRACTICAL APPROACH; rooney and czepulkowski,IRL press ISBN 0-19-963313-4. two volumes covering constitutional analysis and acquired chromosomal abnormalities.practical book with lots of technical details and useful for cytogeneticist in laboratory.

4.HUMAN CHROMOSOME,PRINCIPLES AND TECHNIQUES; verma and babu, mcgraw-hill ISBN 0-07-105432-4. good practical text with great chapters on molecular cytogenetic techniques including in situ hybridisation.

General medical genetics text may also be useful

DEADLINE FEBRAURY 2ND,2009 4PM UK TIME