By Thomas Liehr
Benign & Pathological Chromosomal Imbalances systematically clarifies the illness implications of cytogenetically noticeable replica quantity editions (CG-CNV) utilizing cytogenetic overview of heterochromatic or euchromatic DNA variations. whereas versions of numerous megabasepair might be found in the human genome with out scientific end result, visually distinguishing those benign parts from disorder implications doesn't consistently happen to practitioners conversant in expensive molecular profiling tools reminiscent of FISH, aCGH, and NGS.
As technology-driven ways like FISH and aCGH haven't begun to accomplish the promise of common assurance or price efficacy to pattern investigated, deep chromosome research and molecular cytogenetics is still suitable for know-how translation, examine layout, and healing assessment.
Knowledge of the infrequent yet recurrent rearrangements strange to practitioners saves time and cash for molecular cytogeneticists and genetics counselors, assisting to tell apart benign from destructive CG-CNV. It additionally helps them in determining which molecular cytogenetics instruments to install.
- Shows how to find the inheritance and formation of cytogenetically obvious reproduction quantity diversifications utilizing cytogenetic and molecular methods for genetic diagnostics, sufferer counseling, and therapy plan development
- Uniquely classifies all identified variations by way of chromosomal beginning, saving money and time for researchers in reviewing benign and pathologic editions earlier than expensive molecular equipment are used to investigate
- Side-by-side comparability of reproduction quantity variations with their lately pointed out submicroscopic shape, assisting know-how overview utilizing aCGH and different techniques
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Extra info for Benign & Pathological Chromosomal Imbalances. Microscopic and Submicroscopic Copy Number Variations (CNVs) in Genetics and Counseling
Loss of copy numbers of band p12 can easily be detected using a NOR-specific DNA probe (Color plate 2, Figure IX). Describe this aberration as del(acro)(p12p12). 2) or del(acro)(p10). 52 Benign and Pathological Chromosomal Imbalances • Partial loss of p13 is possible (Color plate 3, Figure II) Describe this aberration as del(acro)(p13p13). • Other forms should also exist, but have not been reported yet. 21->qter); however, here possibly the offspring can be affected, due to inversion loop formation, leading to unbalanced karyotypes.
Three or four NOR signals, due to duplication of p12 and neighboring regions, also have been observed (Color plate 1, Figure IV). 2-p13x4). c. Finally, amplification of NOR can appear, leading to a complete or almost complete coverage of the enlarged short arm with NOR sequences (Color plate 1, Figure V). Describe these aberrations as der(acro)(p12amp). 3. 2 and p13 is also possible, even though they are not easily detectable due to lack of corresponding specific DNA probes; here the following forms can be observed: a.
2011]. , 1989], 21qter (Color plate 2, Figure Vd), 22qter (Color plate 2, Figure Ve). In these latter cases no relevant material was lost on the chromosome to which the acrocentric derived short arm was translocated. In the case reported by Storto et al. (1999) the corresponding derivative chromosome originated mitotically in the father of the prenatally detected case. , 1997]. One case was observed where the derivative chromosome 3 carrying an acrocentric short arm was involved in another balanced translocation; here the long arm with the acrocentric p-arm was translocated to another acrocentric long arm, and a derivative acrocentric with two acrocentric p-arms was formed [Liehr, unpublished data].
Benign & Pathological Chromosomal Imbalances. Microscopic and Submicroscopic Copy Number Variations (CNVs) in Genetics and Counseling by Thomas Liehr