First Report of Low-Rate Mosaicism for 20q11.21q12 Deletion and Delineation of the Associated Disorder
We describe the first case of mosaic 20q11.2 deletion in a 5-year-old girl affected by mild psychomotor delay, feeding difficulties, growth retardation, craniofacial dysmorphisms, and finger anomalies. SNP array analysis disclosed 20% of cells with a 20q11.21q12 deletion, encompassing the 20q11.2 minimal critical region and the 3 OMIM disease-causing genesGDF5,EPB41L1, andSAMHD1. We propose a pathogenic role of other genes mapping outside the small region of overlap, in particularGHRH (growth hormone releasing hormone), whose haploinsufficiency could be responsible for the prenatal onset of growth retardation which is shar...
Source: Cytogenetic and Genome Research - October 29, 2018 Category: Genetics & Stem Cells Source Type: research
Michael Schmid (1948-2018): A Life Devoted to Science
Cytogenet Genome Res (Source: Cytogenetic and Genome Research)
Source: Cytogenetic and Genome Research - October 16, 2018 Category: Genetics & Stem Cells Source Type: research
Characterization of New Wheat-Dasypyrum breviaristatum Introgression Lines with Superior Gene(s) for Spike Length and Stripe Rust Resistance
In this study, wheat-D. breviaristatum 2Vb deletion lines were produced and identified by fluorescence in situ hybridization (FISH), and 74 molecular markers specific toD. breviaristatum chromosome 2Vb were physically localized in 4 distinct chromosomal regions. New wheat-D. breviaristatum 2Vb translocation lines were also characterized by FISH. The breakpoint of the translocation T3AS.3AL-2VbS was determined by physically mapped molecular markers. Field evaluation revealed that genes affecting plant height and spike length are located on fraction length (FL) 0.65-1.00 of 2VbS, while the stripe rust resistance gene(s) are ...
Source: Cytogenetic and Genome Research - October 12, 2018 Category: Genetics & Stem Cells Source Type: research
Characterization of New Wheat- < b > < i > Dasypyrum breviaristatum < /i > < /b > Introgression Lines with Superior Gene(s) for Spike Length and Stripe Rust Resistance
In this study, wheat-D. breviaristatum 2Vb deletion lines were produced and identified by fluorescence in situ hybridization (FISH), and 74 molecular markers specific toD. breviaristatum chromosome 2Vb were physically localized in 4 distinct chromosomal regions. New wheat-D. breviaristatum 2Vb translocation lines were also characterized by FISH. The breakpoint of the translocation T3AS.3AL-2VbS was determined by physically mapped molecular markers. Field evaluation revealed that genes affecting plant height and spike length are located on fraction length (FL) 0.65-1.00 of 2VbS, while the stripe rust resistance gene(s) are ...
Source: Cytogenetic and Genome Research - October 11, 2018 Category: Genetics & Stem Cells Source Type: research
Meiotic Recombination Differences in Rams from Three Breeds of Sheep in the US
This study used a cytogenetic approach to quantify and compare the number of COs per spermatocyte in rams from 3 breeds of sheep: Suffolk, Icelandic, and Targhee. In total, 2,758 spermatocytes and over 170,000 COs were examined. Suffolk rams exhibited the lowest mean number of COs (61.1 ± 0.15) compared to Icelandic (63.5 ± 0.27) and Targhee (65.9 ± 0.26) rams. Significant differences in the number of COs per spermatocyte were observed between Suffolk, Icelandic, and Targhee breeds as well as within each breed. Additionally, the number and location of COs were characterized for homologous chromosomes in a subset of sper...
Source: Cytogenetic and Genome Research - October 8, 2018 Category: Genetics & Stem Cells Source Type: research
A Rare Case of Concomitant Deletions in 15q11.2 and 19p13.3
A female individual with concomitant deletions in 15q11.2 and 19p13.3 is reported. She presents facial dysmorphisms, motor delay, learning difficulties, and mild behavioral impairment. After chromosomal microarray analysis, the final karyotype was established as 46,XX.arr[GRCh37] 15q11.2 (22770421_23282798) ×1,19p13.3(3793904_4816330)×1. The deletion in 15q11.2 is 507 kb in size involving 7 non-imprinted genes, 4 of which are registered in the OMIM database and are implicated in neuropsychiatric or neurodevelopmental disorders. The deletion in 19p13.3 is 1,022 kb in size and encompasses 47 genes, mos t of which do not ha...
Source: Cytogenetic and Genome Research - October 8, 2018 Category: Genetics & Stem Cells Source Type: research
The Persevering Cytotaxonomy: Discovery of a Unique XX/XY Sex Chromosome System in Catfishes Suggests the Existence of a New, Endemic and Rare Species
The genusHypostomus 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 thatHypostomusancistroides represents a species complex in the Upper Paran á River basin. In this paper, an unusual karyotype of an isolatedH. aff.ancistroides population was investigated. All specimens of this sample have 2n = 66 chromosomes except for 1 male with 2n = 67, most likely due to a supernumerary chromosome. In this population, the sexes...
Source: Cytogenetic and Genome Research - October 5, 2018 Category: Genetics & Stem Cells Source Type: research
Unbalanced 14;X Translocation and Pattern of X Inactivation in a Female Patient with Multiple Congenital Anomalies
In conclusion, the phenotype of the patient may be partially affected by the haploinsufficiency of the genes that are known to escape X inactivation and that lie within the deleted region and by other deleted or duplicated genes on the abnormal X chromosome due to an alternative pattern of X inactivation. The phenotype of the patient was significantly aggravated and complicated by the functional monosomy of some genes on chromosome 14 due to partial spreading of inactivation and silencing of those genes. This case report indicates the importance of structural and functional studies and emphasizes the clinical importance of...
Source: Cytogenetic and Genome Research - October 5, 2018 Category: Genetics & Stem Cells Source Type: research
Partial 5p Deletion and Partial 5q Duplication in a Patient with Multiple Congenital Anomalies: A Two-Step Mechanism in Chromosomal Rearrangement Mediated by Non-Allelic Homologous Recombination
This report demonstrates the value of chromosome analysis in conjunction with FISH and aCGH for identification of complex rearrangements which cannot be revealed by array analysis alone.Cytogenet Genome Res (Source: Cytogenetic and Genome Research)
Source: Cytogenetic and Genome Research - October 5, 2018 Category: Genetics & Stem Cells Source Type: research
A Challenging Prenatal QF-PCR Rapid Aneuploidy Test Result Caused by a Maternally Inherited Triplication within Chromosome Xq26.2
The aim of this study was to investigate the origin of the biallelic trisomic amplification pattern of the X chromosome microsatellite marker DXS1187 in an otherwise normal male fetus, identified on routine rapid aneuploidy detection (RAD) testing by quantitative fluorescent-polymerase chain reaction (QF-PCR). Amniocentesis was performed on a 35-year-old female at 15 weeks, 2 days gestation for a positive first trimester screen. QF-PCR, metaphase FISH, and chromosomal microarray were carried out on both maternal and fetal DNA. Fetal QF-PCR showed a biallelic trisomic pattern for the X chromosome microsatellite marker DXS11...
Source: Cytogenetic and Genome Research - October 5, 2018 Category: Genetics & Stem Cells Source Type: research
Intragenic Microdeletion of ULK4 and Partial Microduplication of BRWD3 in Siblings with Neuropsychiatric Features and Obesity
We report on 2 brothers, aged 7.6 and 20 years, presenting with cognitive impairment, epilepsy, autistic features, hearing loss, and obesity. Array-CGH analysis demonstrated 2 rare CNVs in both siblings: a paternally inherited microdeletion of ∼145 kb at 3p22.1, disrupting theULK4 gene, and a maternally inherited microduplication of ∼117 kb at Xq21.1 including only theBRWD3 gene. As already described for other recurrent syndromes with variable phenotype, these findings are challenging in genetic counseling because of an evident variable penetrance. We discuss the possible correlations between the clinical phenotype of ...
Source: Cytogenetic and Genome Research - August 8, 2018 Category: Genetics & Stem Cells Source Type: research
Comparative Chromosome Painting in Genets (Carnivora, Viverridae, Genetta), the Only Known Feliforms with a Highly Rearranged Karyotype
Mammalian carnivores have been extensively studied by cross-species chromosome painting, which indicated a high degree of karyotypic conservatism in the cat-like suborder Feliformia relative to the ancestral carnivore karyotype (ACK). The first exception to this high degree of karyotypic conservation in feliforms was recently confirmed in genets, mesocarnivores belonging to the basal family Viverridae. Here, we present a comparative analysis of the chromosome rearrangements among 2 subspecies of the small-spotted genetGenetta genetta (the Iberian nominate and the Arabiangrantii) and the panther genetG. maculata, the 2 most...
Source: Cytogenetic and Genome Research - August 8, 2018 Category: Genetics & Stem Cells Source Type: research
Intragenic Microdeletion of < b > < i > ULK4 < /i > < /b > and Partial Microduplication of < b > < i > BRWD3 < /i > < /b > in Siblings with Neuropsychiatric Features and Obesity
We report on 2 brothers, aged 7.6 and 20 years, presenting with cognitive impairment, epilepsy, autistic features, hearing loss, and obesity. Array-CGH analysis demonstrated 2 rare CNVs in both siblings: a paternally inherited microdeletion of ∼145 kb at 3p22.1, disrupting theULK4 gene, and a maternally inherited microduplication of ∼117 kb at Xq21.1 including only theBRWD3 gene. As already described for other recurrent syndromes with variable phenotype, these findings are challenging in genetic counseling because of an evident variable penetrance. We discuss the possible correlations between the clinical phenotype of ...
Source: Cytogenetic and Genome Research - August 7, 2018 Category: Genetics & Stem Cells Source Type: research
Comparative Chromosome Painting in Genets (Carnivora, Viverridae, < b > < i > Genetta < /i > < /b > ), the Only Known Feliforms with a Highly Rearranged Karyotype
Mammalian carnivores have been extensively studied by cross-species chromosome painting, which indicated a high degree of karyotypic conservatism in the cat-like suborder Feliformia relative to the ancestral carnivore karyotype (ACK). The first exception to this high degree of karyotypic conservation in feliforms was recently confirmed in genets, mesocarnivores belonging to the basal family Viverridae. Here, we present a comparative analysis of the chromosome rearrangements among 2 subspecies of the small-spotted genetGenetta genetta (the Iberian nominate and the Arabiangrantii) and the panther genetG. maculata, the 2 most...
Source: Cytogenetic and Genome Research - August 7, 2018 Category: Genetics & Stem Cells Source Type: research
The PMEL Gene and Merle in the Domestic Dog: A Continuum of Insertion Lengths Leads to a Spectrum of Coat Color Variations in Australian Shepherds and Related Breeds
Merle is a distinct coat color and pattern found in numerous species, including the domestic dog, characterized by patches of diluted eumelanin (black pigment) interspersed among areas of normal pigmentation. In dogs, this variegated pattern is caused by an insertion of a SINE element into the caninePMEL gene. Although variation in the length of the SINE insertion - due to a variable-length poly(A) tail - has been observed to be associated with variation in merle coat color and patterning, no systematic evaluation of this correlation has been conducted and published in the scientific literature. We performed high-resolutio...
Source: Cytogenetic and Genome Research - August 3, 2018 Category: Genetics & Stem Cells Source Type: research
