Pleomorphic mastocytoma associated with loss of chromosome 5, PDGFRA , and HRAS mutations: A case of cutaneous mastocytosis with severe atypia and indolent behavior

2020 ◽  
Vol 48 (1) ◽  
pp. 116-122
Author(s):  
Mariantonieta Tirado ◽  
Sheila M. Dobin ◽  
Martin P. Fernandez ◽  
Arundhati Rao
Keyword(s):  
Chromosome 5 ◽  
Severe Atypia ◽  
Cutaneous Mastocytosis

Two Pediatric Cases of Cutaneous Mastocytosis: Searching for a Mutation in the c-kit Gene

2009 ◽  
Vol 71 (5) ◽  
pp. 483-486
Author(s):  
Akemi TAKEMOTO ◽  
Michiya YAMAGUCHI ◽  
Yumiko HAGIYA ◽  
Masahiko MUTO
Keyword(s):  
Kit Gene ◽  
Cutaneous Mastocytosis

scholarly journals Complete Maternal Isodisomy of Chromosome 5 in a Japanese Patient with Netherton Syndrome

2014 ◽  
Vol 134 (3) ◽  
pp. 849-852 ◽  
Author(s):  
Sanae Numata ◽  
Takahiro Hamada ◽  
Kwesi Teye ◽  
Mitsuhiro Matsuda ◽  
Norito Ishii ◽  
...  
Keyword(s):  
Japanese Patient ◽  
Chromosome 5 ◽  
Netherton Syndrome

Eosinophilic fasciitis associated with hypereosinophilia, abnormal bone-marrow karyotype and inversion of chromosome 5

2013 ◽  
Vol 39 (2) ◽  
pp. 150-153 ◽  
Author(s):  
J. S. Ferguson ◽  
J. Bosworth ◽  
T. Min ◽  
J. Mercieca ◽  
C. A. Holden
Keyword(s):  
Bone Marrow ◽  
Eosinophilic Fasciitis ◽  
Chromosome 5 ◽  
Abnormal Bone Marrow ◽  
And Inversion

CROSSING OVER AND DIPLOID EGG FORMATION IN THE ELONGATE MUTANT OF MAIZE

Genetics ◽  
1975 ◽  
Vol 79 (3) ◽  
pp. 435-450
Author(s):  
P M Nel
Keyword(s):  
Chromosome 9 ◽  
Meiotic Spindle ◽  
Crossing Over ◽  
Chromosome 5 ◽  
Basic Difference ◽  
Egg Formation ◽  
Preferential Segregation ◽  
Centric Region ◽  
Female Values ◽  
Female Flowers

ABSTRACT Rhoades (1941) found recombination in the proximal regions of chromosome 5 to be higher in male than in female flowers. Two explanations were proposed to account for the lower female values, namely: (1) there is a basic difference in rates of crossing over in mega- and microsporocytes, or (2) selective orientation of the chromosome 5 bivalent on the meiotic spindle leads to the preferential segregation of noncrossover chromatids to the basal megaspore. These alternatives have been tested by carrying out a half-tetrad analysis of the diploid eggs produced by plants homozygous for the recessive elongate (el) allele. The A2—Bt crossover values determined from the diploid eggs of elongate plants were much lower than those calculated from haploid sperm of both El el and el el plants. Since male and female flowers should have similar cross-over values if the orientation hypothesis were correct, it was concluded that the amount of crossing over in the A2-Bt region of chromosome 5 is intrinsically higher in male than in female meiocytes. In the analysis of diploid eggs the use of the Bt locus, which marks the centric region of chromosome 5, provided information on the origin of diploid eggs. The genotypic constitution of 425 diploid eggs was ascertained. Of these, 20.4% were Bt bt. They could not be accounted for by failure of the second meiotic division or by replication during the interphase between the two meiotic divisions, but are expected if there is a single division with an equational separation of the centromere regions of chromosome 5. The Bt Bt and bt bt genotypes arise from a disjunctional separation. It is proposed that diploid eggs are produced by an abnormal meiosis in which there is one division with either disjunctional or equational separation. Disjunctional separation is more frequent but the ratio of the two types varies from ear to ear. Recombination in the A2-Bt-Pr region of chromosome 5 was found to be higher in the haploid gametes of elongate homozygotes than in El El and El el plants. On the other hand, crossing over was reduced in the Sh-Bz segment of chromosome 9 in elongate plants, but the adjacent Bz—Wx interval was unaffected.

Interobserver variability in the classification of childhood maculopapular cutaneous mastocytosis

2021 ◽  
Author(s):  
Antonio Torrelo ◽  
Laura Vergara‐de‐la‐Campa ◽  
José Manuel Azaña ◽  
Shoshana Greenberger ◽  
Joseph M. Lam ◽  
...  
Keyword(s):  
Interobserver Variability ◽  
Cutaneous Mastocytosis

scholarly journals Clinical characterization of chromosome 5q21.1–21.3 microduplication: A case report

Open Medicine ◽  
2020 ◽  
Vol 15 (1) ◽  
pp. 1123-1127
Author(s):  
Shuang Chen ◽  
Yang Yu ◽  
Han Zhang ◽  
Leilei Li ◽  
Yuting Jiang ◽  
...  
Keyword(s):  
Case Report ◽  
Microarray Analysis ◽  
Prenatal Testing ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Chromosome 5 ◽  
Left Lateral Ventricle ◽  
Pulsed Doppler Ultrasound

AbstractChromosomal microdeletions and microduplications likely represent the main genetic etiologies for children with developmental delay or intellectual disability. Through prenatal chromosomal microarray analysis, some microdeletions or microduplications can be detected before birth to avoid unnecessary abortions or birth defects. Although some microdeletions or microduplications of chromosome 5 have been reported, numerous microduplications remain undescribed. We describe herein a case of a 30-year-old woman carrying a fetus with a chromosome 5q21.1–q21.3 microduplication. Because noninvasive prenatal testing indicated a fetal chromosome 5 abnormality, the patient underwent amniocentesis at 22 weeks 4 days of gestation. Karyotyping and chromosomal microarray analysis were performed on amniotic fluid cells. Fetal behavioral and structural abnormalities were assessed by color and pulsed Doppler ultrasound. Clinical characteristics of the newborn were assessed during the follow-up. The left lateral ventricle appeared widened on ultrasound, but the infant appeared normal at birth. The 5q21.1–q21.3 microduplication in the fetus was inherited from his mother. There are seven genes in this duplication region, but their main functions are unclear. According to this case report, microduplication in this region could represent a benign mutation. Clinicians should pay attention to the breakpoints and the genes involved when counseling patients with microdeletions and microduplications.

scholarly journals Dissection of a locus on mouse chromosome 5 reveals arthritis promoting and inhibitory genes

2009 ◽  
Vol 11 (1) ◽  
pp. R10 ◽  
Author(s):  
Therese Lindvall ◽  
Jenny Karlsson ◽  
Rikard Holmdahl ◽  
Åsa Andersson
Keyword(s):  
Mouse Chromosome ◽  
Chromosome 5

A comprehensive analysis of QTL for abdominal fat and breast muscle weights on chicken chromosome 5 using a multivariate approach

2009 ◽  
Vol 40 (2) ◽  
pp. 157-164 ◽  
Author(s):  
G. Le Mignon ◽  
F. Pitel ◽  
H. Gilbert ◽  
E. Le Bihan-Duval ◽  
F. Vignoles ◽  
...  
Keyword(s):  
Abdominal Fat ◽  
Comprehensive Analysis ◽  
Breast Muscle ◽  
Chicken Chromosome ◽  
Multivariate Approach ◽  
Chromosome 5

Serine proteinases in human cutaneous mastocytosis

1986 ◽  
Vol 278 (5) ◽  
pp. 363-366 ◽  
Author(s):  
J. E. Fr�ki ◽  
N. M. Schechter ◽  
G. S. Lazarus
Keyword(s):  
Serine Proteinases ◽  
Cutaneous Mastocytosis
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