Search results for "Karyotype"

GH successful treatment in a female with a de novo 46,XX,add(X)(p36),t(X;Y)(p36.3;p11.2), growth impairment and SHOX-haploinsufficiency

2019

Abstract Children with chromosome translocations, concerning X chromosome, have a genetic pattern different from Turner syndrome; however, when a translocation involves the of part of X chromosome including short stature homeobox-containing Sex-determining Region Y gene, growth may be severely compromised. We describe the clinical case of a 2.2-year-old-female, arrived at our paediatric unit for a decrease of height velocity. The karyotype was 46,XX,add(X)(p36.3). Array comparative genomic hybridization showed a fragment of Y chromosome, extended from 8.803.981 (Yp11.2) to 28.767.604 (Yq11.23). The final karyotype was 46,XX,add(X)(p36),t(X;Y)(p36.3;p11.2). Fluorescence in situ Hybridization…

Ring 17 syndrome: first clinical report without intellectual disability

2015

Ring chromosomes are rare abnormalities caused by the fusion of the telomeric regions. Three-ring chromosome syndromes (Cr 20, Cr 17 and Cr 14) cause epilepsy with variable phenotypes. In ring 17 patients with mild phenotype, some authors have shown an epilepsy syndrome similar to that of ring 20. We report the first case of a girl with ring chromosome 17 and a normal neurological and general cognitive profile. She had had, from 9 years old, focal pharmacoresistant epilepsy associated with episodes of non-convulsive status epilepticus with mainly autonomic features. Cytogenetic analysis revealed an abnormal karyotype characterised by the presence of de novo ring chromosome 17 in 19% of meta…

Near-Haploidy in a Malignant Sacrococcygeal Teratoma

1999

Cytogenetic analysis of a malignant sacrococcygeal teratoma in an adult patient revealed near-haploid (77%), near-diploid (19%), and polyploid (4%) cells. The near-haploid cells had a karyotype of 25,XX,der(5)t(5;7)(p15;p13),+7,der(9)t(6;9)(p21;q34),r(17)(p13q25) . In the near-diploid and polyploid cells identical copies of the structural chromosomal changes were found. Although some of the anomalies observed appear unique to this case, a common breakpoint in chromosome 6 was previously reported as specific in a subgroup of extragonadal germ cell tumors of adults.

Characterization of mitotic chromosomes of four species of the genus Diplodus: Karyotypes and chromosomal nucleolar organizer region phenotypes

1996

Karyotypes have been described in four Mediterranean species of the genus Diplodus (Teleostei, Sparidae), D. vulgaris, D. puntazzo, D. sargus and D. annularis. Chromosomes were mainly acrocentric in all but D. vulgaris, where certain chromosome pairs were subtelocentric. A remarkable intraspecific heteromorphism in the number of NOR-bearing chromosomes along with a substantial interspecific variability in position of chromosomal Ag signals have been encountered. The presumed origin of multiple NOR-bearing chromosomes in Diplodus species and variation of the NOR location is discussed. ? 1996 The Fisheries Society of the British Isles

Comparative Phylogenomic Data on Primates through Chromosomal Painting

2009

Allium kyrenium (Amaryllidaceae), a new species from Northern Cyprus.

2015

Allium kyrenium, a new species of Allium sect. Codonoprasum, is described and illustrated from northern Cyprus. It is a very circumscribed geophyte growing on the calcareous cliffs of the Kyrenia range. This diploid species, with a somatic chromosome number 2n = 16, shows close morphological relationships with A. stamineum, a species complex distributed in the eastern Mediterranean area. Its morphology, karyology, leaf anatomy, ecology, conservation status and taxonomical relationships with the allied species belonging to the A. stamineum group are examined.

Multiple chromosome polymorphism in the gobiid fish Gobius niger jozo L. 1758 (Pisces, Gobiidae).

1989

By analysing chromosome preparation from 42 Gobius niger jozo specimens from the Gulf of Palermo (Sicily), four different karyotypes were observed: A (2n=52; NF=60), B (2n=51; NF=60), C (2n=50; NF=60) and D (2n=49; NF=60). A chromosome polymorphism due to Robertsonian fusion is present in this species.

Splenic Marginal Zone Lymphoma Shows a Distinct Pattern of DNA Copy Number Aberrations That Correlates with Tumor Characteristics and Predicts Diseas…

2006

Abstract Splenic marginal zone lymphoma (SMZL) is an indolent B cell malignancy whose diagnosis is based on lymphocyte morphology, immunophenotype and marrow and/or splenic histology. Unlike other lymphomas, there is not a common chromosomal translocation specific for SMZL, and genetic prognostic factors are poorly defined. To investigate the pattern of genomic aberrations in SMZL, we applied comparative genomic hybridization to BAC microarrays (array CGH) to a well characterized series of 75 SMZL specimens. We applied two different 1 Mb-resolution BAC arrays: UCSF HumArray 3.2 and a novel array CGH platform developed at Univ. of Salamanca. These arrays allowed us to detect DNA copy number …

Genetic sex determination and sex-specific lifespan in tetrapods – evidence of a toxic Y effect

2020

ABSTRACTSex-specific lifespans are ubiquitous across the tree of life and exhibit broad taxonomic patterns that remain a puzzle, such as males living longer than females in birds and vice versa in mammals. The prevailing “unguarded-X” hypothesis (UXh) explains this by differential expression of recessive mutations in the X/Z chromosome of the heterogametic sex (e.g., females in birds and males in mammals), but has only received indirect support to date. An alternative hypothesis is that the accumulation of deleterious mutations and repetitive elements on the Y/W chromosome might lower the survival of the heterogametic sex (“toxic Y” hypothesis). Here, we report lower survival of the heterog…

Chromosome numbers of severalLamiaceae from Spain

1998

Chromosome numbers of twenty taxa, almost all of them Iberian endemics, of the generaTeucrium, Sideritis, Thymus andSalvia are reported. New chromosome numbers are given for the following taxa:Teucrium homotrichum (2n=78),T. hifacense (2n=26),T. rivasii (2n=26),T. rivas-martinezii (2n=26),Sideritis edetana (2n=30),S. murgetana subsp.littoralis (2n=28), and the hybridS. xviciosoi (2n=27). The first count on Iberian material forSalvia pratensis (2n=18) is reported. Chromosome numbers have been confirmed for the rest of the taxa studied on material from SE Spain. Karyotype analyses and taxonomic remarks are included.