Molecular Cytogenetics - Latest Comments

Correction of proband's karyotype.

Emmanouil Manolakos — 2011-06-06T10:57:52Z

In the Results section: The karyotype of the proband was defined as follows: 46,XY.ish der(15)(15pter->15q11.2::22q11.2->22qter)t(15;22)(q11.2;q11.2)mat(TUPLE-,TBX1-).

Correction to typographical error

Michael B. Petersen — 2010-03-06T15:50:17Z

"We apologize for the typographical error in the cited reference [5] in the published manuscript. "Mattina T, Concetta SP, Grossfeld P: Jacobsen syndrome. Orphanet J Rare Dis 2009, 4:9" should read "Mattina T, CS Perrotta, Grossfeld P: Jacobsen syndrome. Orphanet J Rare Dis 2009, 4:9"

Full Steam Ahead

H.-Ulli Weier — 2010-03-06T15:47:23Z

Full Steam Ahead – The Unsinkable Journey of Interphase Cytogenetics.

Usually, I do not submit comments on review articles. Thus, I hope you forgive me, if this comment turns out to be a bit too wordy. Yet, it’s my great pleasure to bring to your attention this review article describing the present state of interphase cytogenetics and recent developments in the field.
The BMC - Molecular Cytogenetics article summarizes relevant developments in interphase analysis from the dark days of interphase cytogenetics (the 1980’ies), when only few probes and techniques in more-or-less-in-their infancy existed to the present state. Quite frankly, Dr. SG Vorsanova and her colleagues, Drs. YB Yorov and IY Iourov, did no less than an outstanding job in providing an overview of what technologies are available nowadays to the basic and advanced clinical or research laboratory. Being widely recognized experts in the field of cerebral/neuronal aneuploidy, they took it upon themselves to provide the reader with an in-depth review of state-of-the-art technologies for the chromosomal analysis of interphase cell nuclei in various types of tissue ranging from ovarian to extra-embryonic to fully differentiated adult tissues.
There are two important areas which, in my opinion, provide uniqueness and strength to this paper: the authors provide numerous educational illustrations which emphasize their major points of technical, FISH-based approaches to interphase analysis, and they provide an extensive list of reference articles.

This may not be an article you glance over and file. This may, however, be the article you keep at arm’s reach for easy reference or select for classroom teaching.

From the proof of concept to the application

Alain Bernheim — 2009-04-30T07:37:26Z

This superb paper clearly demonstrates a condensation asymetry between R and G bands that are intimely linked to the functionnal structure of the genome. It shows also that chromosome banding and sequence are not mathematicaly linked.
There is a need to address the exact localization and spliting of tiling probes (BAC or smaller) on human genomes (male and female) to assign each bit of the complete sequence to the metaphasic and interphasic chromosomes in detail. This huge project is technically feasible via a consortium. But will be a scientific mobilisation ?