Abstract：
:Several patients with 5p duplication or 15q deletion have been reported in the literature, involving different chromosome regions and clinical features. Here, we describe a family in which we identified a 30-Mb 5p15.33p13.3 gain and a 2.5-Mb 15q26.3 loss in 3 individuals, due to a balanced familial translocation between chromosomes 5p and 15q. They presented a similar combination of clinical findings related to their genetic imbalances, but there were also phenotypic differences between them. Our analyses show that their clinical picture is mostly caused by the loss in 15q and not the gain in 5p, despite its much larger size. Our findings suggest that other genes, besides the IGF1R gene, in the 15q26.3 region, such as the CHSY1 gene, may have a great impact on the clinical picture of the syndrome. Our data emphasize the importance of detailed cytogenomic and clinical analyses for an accurate diagnosis, prognosis, and genetic counseling, providing an opportunity to improve genotype-phenotype correlations of patients with partial 5p duplication and 15q deletion syndromes.
journal_name
Cytogenet Genome Resjournal_title
Cytogenetic and genome researchauthors
Bellucco FT,Favilla BP,Perrone E,Melaragno MIdoi
10.1159/000511235subject
Has Abstractpub_date
2020-12-14 00:00:00pages
1-8eissn
1424-8581issn
1424-859Xpii
000511235pub_type
abstract：:Homologous chromosome pairing and recombination are essential components of meiosis and sexual reproduction. The reshuffling of genetic material through breakage and reunion of chromatids ensure proper segregation of homologous chromosomes in reduction division and genetic diversity in the progeny. The advent of somat...
journal_title：Cytogenetic and genome research
pub_type： 杂志文章
doi：10.1159/000118745
更新日期：2008-01-01 00:00:00
abstract：:DNA methylation has been implicated in mammalian development. Transcription units contain CpG islands, but expression of CpG island associated genes in normal tissues was not believed to be controlled by DNA methylation. There are, however, numerous CpG islands containing tissue-dependent and differentially methylated...
journal_title：Cytogenetic and genome research
pub_type： 杂志文章
doi：10.1159/000078205
更新日期：2004-01-01 00:00:00
abstract：:The purpose of this study was to identify a technique that allows for comprehensive chromosome screening (CCS) of individual cells within human blastocysts along with the approximation of their location in the trophectoderm relative to the inner cell mass (ICM). This proof-of-concept study will allow for a greater und...
journal_title：Cytogenetic and genome research
pub_type： 杂志文章
doi：10.1159/000449051
更新日期：2016-01-01 00:00:00
abstract：:It is widely accepted that unrepaired or misrepaired DNA double strand breaks (DSBs) lead to the formation of chromosome aberrations. DSBs induced in the DNA of higher eukaryotes by endogenous processes or exogenous agents can in principle be repaired either by non-homologous endjoining (NHEJ), or homology directed re...
journal_title：Cytogenetic and genome research
pub_type： 杂志文章,评审
doi：10.1159/000077461
更新日期：2004-01-01 00:00:00
abstract：:1q44 deletion is a rare syndrome associated with facial dysmorphism and developmental delay, in particular related with expressive speech, seizures, and hypotonia (ORPHA:238769). Until today, the distinct genetic causes for the different symptoms remain not entirely clear. We present a patient with a 2.3-Mb 1q44 delet...
journal_title：Cytogenetic and genome research
pub_type： 杂志文章
doi：10.1159/000504424
更新日期：2019-01-01 00:00:00
abstract：:Three activities hallmark meiotic cell division: homologous chromosome pairing, synapsis, and recombination. Recombination and synapsis are well-studied but homologous pairing still holds many black boxes. In the past several years, many studies in plants have yielded insights into the mechanisms of chromosome pairing...
journal_title：Cytogenetic and genome research
pub_type： 杂志文章,评审
doi：10.1159/000121080
更新日期：2008-01-01 00:00:00
abstract：:2q37.3 deletion syndrome belongs to the chromosomal 2q37 deletion spectrum which clinically resembles Albright hereditary osteodystrophy (AHO) syndrome. It is is mainly characterized by short stature, obesity, round face, brachydactyly type E, intellectual disability, behavioral problems, and variable intellectual def...
journal_title：Cytogenetic and genome research
pub_type： 杂志文章
doi：10.1159/000431389
更新日期：2015-01-01 00:00:00
abstract：:The INRA and the CHORI-241 horse BAC libraries were screened by hybridization with DNA probes and/or directly by PCR with primers designed in consensus sequences of genes localized at the end of each human chromosome. BAC clones were retrieved and 36 could be FISH mapped after the expected gene was confirmed in each B...
journal_title：Cytogenetic and genome research
pub_type： 杂志文章
doi：10.1159/000085669
更新日期：2005-01-01 00:00:00
abstract：:Genetic maps are based on the recombination frequency of molecular markers which often show different positions in comparison to the corresponding physical maps. To decipher the position and order of DNA sequences genetically mapped to terminal and interstitial regions of barley (Hordeum vulgare) chromosome 3H, fluore...
journal_title：Cytogenetic and genome research
pub_type： 杂志文章
doi：10.1159/000478631
更新日期：2017-01-01 00:00:00
abstract：:Centromeres are the sites of kinetochore assembly and spindle fiber attachment and consist of protein-DNA complexes in which the DNA component is typically characterized by the presence of extended arrays of tandem repeats called satellite DNA. Here, we describe the isolation and characterization of a 137-bp-long new ...
journal_title：Cytogenetic and genome research
pub_type： 杂志文章
doi：10.1159/000368138
更新日期：2014-01-01 00:00:00
abstract：:In rye each B chromosome (B) represents 5.5% of the diploid A genome. Rye Bs have several nuclear to whole plant effects although they seem to bear no genes except for the ones that lead to their maintenance within a population. In this context, and considering that rye Bs are enriched in repetitive non-coding regions...
journal_title：Cytogenetic and genome research
pub_type： 杂志文章
doi：10.1159/000079306
更新日期：2004-01-01 00:00:00
abstract：:Rubus yellow net virus (RYNV) infects Rubus spp., causing a severe decline when present in mixed infections with other viruses. RYNV belongs to the family Caulimoviridae, also known as plant pararetroviruses, which can exist as episomal or integrated elements (endogenous). Most of integrated pararetroviruses are nonin...
journal_title：Cytogenetic and genome research
pub_type： 杂志文章
doi：10.1159/000509845
更新日期：2020-01-01 00:00:00
abstract：:The most prevalent structural variations in the human genome are copy number variations (CNVs), which appear predominantly in the subtelomeric regions. Variable sizes of 4p/4q CNVs have been associated with several different psychiatric findings and developmental disability (DD). We analyzed 105 patients with congenit...
journal_title：Cytogenetic and genome research
pub_type： 杂志文章
doi：10.1159/000448905
更新日期：2016-01-01 00:00:00
abstract：:Sperm chromosome abnormalities cut across a number of areas relevant to ICC XV. The association between increased levels of sperm aneuploidy (usually disomy) and male infertility has implications for the sessions on reproduction, sex chromosomes, aneuploidy and meiosis and was, to the best of our knowledge, first repo...
journal_title：Cytogenetic and genome research
pub_type： 杂志文章,评审
doi：10.1159/000079575
更新日期：2004-01-01 00:00:00
abstract：:Retroelements (REs) actively reshape genomes through genomic rearrangements, creation of new genes and modulation of the regulatory machinery of existing genes, thus introducing genomic novelties which potentially may be subject to natural selection. Thousands of RE integrations, presumably distinguishing the human an...
journal_title：Cytogenetic and genome research
pub_type： 杂志文章,评审
doi：10.1159/000084980
更新日期：2005-01-01 00:00:00
abstract：:Black porgy, Acanthopagrus schlegeli Bleeker, is a marine protandrous hermaphrodite fish. A Dmrt1 cDNA was cloned and characterized and in order to study the process of sex change in this species, mRNA transcripts of Dmrt1 were monitored. Dmrt1 was specifically transcribed in testis and seminal vesicle in 2-year-old b...
journal_title：Cytogenetic and genome research
pub_type： 杂志文章
doi：10.1159/000074354
更新日期：2003-01-01 00:00:00
abstract：:Precise breakpoint definition of chromosomal rearrangements using conventional banding techniques often fails, especially when more than two breakpoints are involved. The classic banding procedure results in a pattern of alternating light and dark bands. Hence, in banded chromosomes a specific chromosomal band is rath...
journal_title：Cytogenetic and genome research
pub_type： 杂志文章
doi：10.1159/000077521
更新日期：2004-01-01 00:00:00
abstract：:Uniparental chromosome elimination occurs in several interspecific hybrids of plants. We studied the mechanism underlying selective elimination of the paternal chromosomes during the development of Hordeum vulgare x H. bulbosum hybrid embryos that is restricted to an early stage of development. In almost all embryos m...
journal_title：Cytogenetic and genome research
pub_type： 杂志文章
doi：10.1159/000093334
更新日期：2006-01-01 00:00:00
abstract：:The epigenome is thought to mediate between genes and the environment, particularly in response to adverse life experiences. Similar to other psychiatric diseases, the suicide liability of an individual appears to be influenced by many genetic factors of small effect size as well as by environmental stressors. To iden...
journal_title：Cytogenetic and genome research
pub_type： 杂志文章
doi：10.1159/000435778
更新日期：2015-01-01 00:00:00
abstract：:ZOO-FISH mapping shows human chromosomes 1, 9 and 10 share regions of homology with pig chromosome 10 (SSC10). A more refined comparative map of SSC10 has been developed to help identify positional candidate genes for QTL on SSC10 from human genome sequence. Genes from relevant chromosomal regions of the public human ...
journal_title：Cytogenetic and genome research
pub_type： 杂志文章
doi：10.1159/000075736
更新日期：2003-01-01 00:00:00
abstract：:Telomerase is expressed in more than 90% of human cancers. Telomere maintenance by this enzyme is believed to safeguard genomic integrity in neoplastic cells. Nevertheless, many telomerase-expressing tumours exhibit chromosomal instability triggered by short, dysfunctional telomeres, implying that active telomerase is...
journal_title：Cytogenetic and genome research
pub_type： 杂志文章,评审
doi：10.1159/000108310
更新日期：2007-01-01 00:00:00
abstract：:In addition to their location at terminal positions, telomeric-like repeats are also present at internal sites of the chromosomes (intrachromosomal or interstitial telomeric sequences, ITSs). According to their sequence organization and genomic location, two different kinds of ITSs can be identified: (1) heterochromat...
journal_title：Cytogenetic and genome research
pub_type： 杂志文章,评审
doi：10.1159/000167807
更新日期：2008-01-01 00:00:00
abstract：:The nuclear organization of spermatocytes in meiotic prophase I is primarily determined by the synaptic organization of the bivalents that are bound by their telomeres to the nuclear envelope and described as arc-shaped trajectories through the 3D nuclear space. However, over this basic meiotic organization, a spermat...
journal_title：Cytogenetic and genome research
pub_type： 杂志文章,评审
doi：10.1159/000460811
更新日期：2017-01-01 00:00:00
abstract：:The genus Hypostomus has a broad geographic distribution in Brazilian rivers and comprises armored catfishes with a very complicated taxonomy due to the absence of morphological autapomorphies. The existence of nearly 10 allopatric populations with different karyotypes suggests that Hypostomusancistroides represents a...
journal_title：Cytogenetic and genome research
pub_type： 杂志文章
doi：10.1159/000492959
更新日期：2018-09-28 00:00:00
abstract：:Breast cancer is a complex and heterogeneous disease, and the establishment of cell models in order to properly study the disease at the molecular and cellular level is of utmost importance. Here, we present the cytogenetic characterization and gene expression analysis of the tumoral mammary rat cell line CLS-ACI-1. T...
journal_title：Cytogenetic and genome research
pub_type： 杂志文章
doi：10.1159/000441374
更新日期：2015-01-01 00:00:00
abstract：:Sex-determining mechanisms (SDMs) set an individual's sexual fate by its genotype (genotypic sex determination, GSD) or environmental factors like temperature (temperature- dependent sex determination, TSD), as in turtles where the GSD "trigger" remains unknown. SDMs co-evolve with turtle chromosome number, perhaps be...
journal_title：Cytogenetic and genome research
pub_type： 杂志文章
doi：10.1159/000497302
更新日期：2019-01-01 00:00:00
abstract：:The most common type of karyotype abnormality detected in infertile subjects is represented by Klinefelter's syndrome, and the most frequent non-chromosomal alteration is represented by Y chromosome long arm microdeletions. Here we report our experience and a review of the literature on sperm sex chromosome aneuploidi...
journal_title：Cytogenetic and genome research
pub_type： 杂志文章,评审
doi：10.1159/000086905
更新日期：2005-01-01 00:00:00
abstract：:In this report, we describe three unrelated patients with similar symptoms such as mental retardation, growth delay and multiple phenotypic abnormalities. GTG-banding analysis revealed karyotypes with add(1p) in two cases and an add(1q) in the third. Fluorescence in situ hybridization (FISH) analysis using high resolu...
journal_title：Cytogenetic and genome research
pub_type： 杂志文章
doi：10.1159/000086388
更新日期：2005-01-01 00:00:00
abstract：:Coamplification of multiple segments of chromosome 2, including an MYCN-bearing segment, was examined in 2 cancer cell lines, NCI-H69 (lung cancer) and IMR-32 (neuroblastoma). High-resolution array-CGH analysis revealed 13 and 6 highly amplified segments located at different sites in chromosome 2 in NCI-H69 and IMR-32...
journal_title：Cytogenetic and genome research
pub_type： 杂志文章
doi：10.1159/000334349
更新日期：2012-01-01 00:00:00
abstract：:The mammalian collagen, type IX, alpha 2 gene (COL9A2) encodes the alpha-2 chain of type IX collagen and is located on horse chromosome 2p16-->p14 harbouring a quantitative trait locus for osteochondrosis. We isolated a bacterial artificial chromosome (BAC) clone containing the equine COL9A2 gene and determined the co...
journal_title：Cytogenetic and genome research
pub_type： 杂志文章
doi：10.1159/000095229
更新日期：2006-01-01 00:00:00
