scholarly journals Identification of Chromosome 17 Trisomy in a Cynomolgus Monkey (Macaca fascicularis) by Multicolor FISH Techniques

2021 ◽  
pp. 1-6
Author(s):  
Aoi Kimura ◽  
Satowa Yahashi ◽  
Fumio Chatani ◽  
Hideyuki Tanabe
Keyword(s):  
Cynomolgus Monkey ◽  
Macaca Fascicularis ◽  
Extra Chromosome ◽  
Clinical Signs ◽  
Trisomy 13 ◽  
Abnormal Behavior ◽  
Chromosome 17 ◽  
Multicolor Fish ◽  
Metaphase Chromosomes ◽  
Patau Syndrome

A female cynomolgus monkey (<i>Macaca fascicularis</i>) with facial features characteristic of Down syndrome showed abnormal behavior, unwariness toward humans, and poor concentration. The number of metaphase chromosomes in blood lymphocytes was examined and found to be 43, which indicated one extra chromosome to the normal diploid number (2n = 42). We then used Q-banding and multicolor FISH techniques to identify the extra chromosome. The results revealed an additional chromosome 17, with no other chromosomal rearrangements, such as translocations. Since no mosaicism or heterozygous variant chromosomes were observed, full trisomy 17 was assessed in this female cynomolgus monkey. Chromosome 17 corresponds to human chromosome 13, and human trisomy 13, known as Patau syndrome, results in severe clinical signs and, often, a short life span; however, this individual has reached an age of 10 years with only mild clinical signs. Although genomic differences exist between human and macaques, this individual’s case could help to reveal the pathological and genetic mechanisms of Patau syndrome.

scholarly journals Surgical removal of a telemetry system in a cynomolgus monkey (Macaca fascicularis): a 12-month observation study

2021 ◽  
Vol 37 (1) ◽  
Author(s):  
Doo-Wan Cho ◽  
Hyoung-Yun Han ◽  
Mi-Jin Yang ◽  
Dong Ho Woo ◽  
Su-Cheol Han ◽  
...  
Keyword(s):  
Cynomolgus Monkey ◽  
Macaca Fascicularis ◽  
Clinical Signs ◽  
Experimental Period ◽  
Serum Biochemistry ◽  
Surgical Removal ◽  
Telemetry System ◽  
Observation Study ◽  
The Status ◽  
Conscious Animals

Abstract Background Telemetry is a wireless implanted device that measures biological signals in conscious animals and usually requires surgery for its removal when the study is finished. After removing the device, the animals are either used for other studies or euthanatized. Case presentation Herein, we report the case of a living cynomolgus monkey (Macaca fascicularis) that was used for the entire experimental period, instead of euthanasia, after surgical removal of an implanted telemetry system. Radiography was used to determine the status of the implanted telemetry, following which, a repair surgery was performed for removing the system; clinical signs were used to preserve the life of the cynomolgus monkey. Postoperative clinical signs, food consumption, hematology, and serum biochemistry were examined during the 12-month observational period. No abnormal readings or conditions were observed in the subject after implant removal. Conclusions This study may be a useful case report for living cynomolgus monkeys in telemetry implantations used throughout the study period. We suggest minimizing the suffering and improving the welfare of these animals.

Trisomy 13 with anorectal malformation: an association or an incidental finding?

2013 ◽  
Vol 2 (1-2) ◽  
Author(s):  
Puneet Kumar Arora ◽  
Sindhu Mohandas ◽  
Narendra Aladangady
Keyword(s):  
Imperforate Anus ◽  
Anorectal Malformation ◽  
Incidental Finding ◽  
Extra Chromosome ◽  
Partial Trisomy ◽  
Anorectal Malformations ◽  
Trisomy 13 ◽  
Small Ring ◽  
Patau Syndrome ◽  
English Medical Literature

AbstractThis report describes a baby with trisomy 13 (Patau syndrome) with imperforate anus. It is very unusual for Patau syndrome to be associated with anorectal malformation. In the English medical literature, there are only four reported cases of trisomy13 being associated with imperforate anus: a partial trisomy of chromosome 13q and 20p [Nagai et al. Currarino triad (anorectal malformation, sacral bony abnormality and presacral mass) with partial trisomy of chromosomes 13q and 20p. Clin Genet. 1994;45:272–3.], a mosaic form [46,XX,t(13q13q)/46,XX,–13,+r(13)] (Jalal et al. Unusual mosaic trisomy 13 through 13/13 translocation and monosomy 13 with a small ring. Ann Genet. 1990;33:173–5.) of trisomy 13, a third case in which the form of trisomy 13 was not described (Cho et al. One hundred three consecutive patients with anorectal malformations and their associated anomalies. Arch Pediatr Adolesc Med. 2001;155:587–91.) and a fourth case of trisomy 13 with a Robertsonian translocation of the extra chromosome 13 to chromosome 14 (Lewis and Lander. Trisomy 13 is associated with anorectal malformations. Arch Dis Child. 2007;92:185.).

scholarly journals Prenatal Diagnosis of Translocation 13;13 Patau Syndrome: Clinical Features of Two Cases

2008 ◽  
Vol 11 (1) ◽  
pp. 69-74
Author(s):  
A Pazarbaşi ◽  
O Demirhan ◽  
D Süleymanova-Karahan ◽  
D Taştemir ◽  
E Tunç ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Clinical Features ◽  
Robertsonian Translocation ◽  
Cleft Lip And Palate ◽  
De Novo ◽  
Extra Chromosome ◽  
Trisomy 13 ◽  
Classical Type ◽  
Chromosome 13 ◽  
Patau Syndrome

Prenatal Diagnosis of Translocation 13;13 Patau Syndrome: Clinical Features of Two CasesPatau syndrome is associated with extra chromosome 13 material, either free as in the 47,++13 or in a Robertsonian translocation or another rearrangement. We report on two fetuses with trisomy 13 who were diagnosed prenatally via cord blood and amniocentesis, respectively. They showedde novoRobertsonian translocation between chromosome 13 and 13, and had normal parents. One was detected cytogeneticaly at 24 weeks of gestation with a karyotype of 46, XX, rob(13;13) and lived only 1 month after birth. Holoprosencephaly, proboscis, microphthalmia and heart septal defects were present. The other fetus was examined at 14 weeks gestation because of cystic hygroma, hydrothorax and hyperechogenic kidneys and had the karyotpe 46, XY, rob(13;13). After abortion the fetus was found to have a cleft lip and palate, postaxial polydactyly of the feet, micrognathia, omphalocele, low-set ears with abnormal helix and to be small for the gestational age. Due to the difference in chromosomal makeup seen in non disjunction, there may be differences in expression of several of the features often seen with trisomy 13, either classical type (as in the 47,++13) orde novoRobertsonian translocation type (as in the 46).

scholarly journals L2HGDH Missense Variant in a Cat with L-2-Hydroxyglutaric Aciduria

Genes ◽  
2021 ◽  
Vol 12 (5) ◽  
pp. 682
Author(s):  
Matthias Christen ◽  
Nils Janzen ◽  
Anne Fraser ◽  
Adrian C. Sewell ◽  
Vidhya Jagannathan ◽  
...  
Keyword(s):  
Current Knowledge ◽  
Genetic Defect ◽  
Clinical Signs ◽  
Missense Variant ◽  
Microcytic Anemia ◽  
Abnormal Behavior ◽  
Functional Candidate Gene ◽  
History Of ◽  
The Brain ◽  
Hydroxyglutaric Acid

A 7-month-old, spayed female, domestic longhair cat with L-2-hydroxyglutaric aciduria (L-2-HGA) was investigated. The aim of this study was to investigate the clinical signs, metabolic changes and underlying genetic defect. The owner of the cat reported a 4-month history of multiple paroxysmal seizure-like episodes, characterized by running around the house, often in circles, with abnormal behavior, bumping into obstacles, salivating and often urinating. The episodes were followed by a period of disorientation and inappetence. Neurological examination revealed an absent bilateral menace response. Routine blood work revealed mild microcytic anemia but biochemistry, ammonia, lactate and pre- and post-prandial bile acids were unremarkable. MRI of the brain identified multifocal, bilaterally symmetrical and T2-weighted hyperintensities within the prosencephalon, mesencephalon and metencephalon, primarily affecting the grey matter. Urinary organic acids identified highly increased levels of L-2-hydroxyglutaric acid. The cat was treated with the anticonvulsants levetiracetam and phenobarbitone and has been seizure-free for 16 months. We sequenced the genome of the affected cat and compared the data to 48 control genomes. L2HGDH, coding for L-2-hydroxyglutarate dehydrogenase, was investigated as the top functional candidate gene. This search revealed a single private protein-changing variant in the affected cat. The identified homozygous variant, XM_023255678.1:c.1301A>G, is predicted to result in an amino acid change in the L2HGDH protein, XP_023111446.1:p.His434Arg. The available clinical and biochemical data together with current knowledge about L2HGDH variants and their functional impact in humans and dogs allow us to classify the p.His434Arg variant as a causative variant for the observed neurological signs in this cat.

First-trimester presentation of ultrasound findings in trisomy 13 and validation of multiparameter ultrasound-based risk calculation models to detect trisomy 13 in the late first trimester

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Bartosz Rajs ◽  
Agnieszka Nocuń ◽  
Anna Matyszkiewicz ◽  
Marcin Pasternok ◽  
Michał Kołodziejski ◽  
...  
Keyword(s):  
Heart Defects ◽  
False Positive Rate ◽  
Nasal Bone ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Trisomy 13 ◽  
Ductus Venosus ◽  
Patau Syndrome ◽  
A Prospective Study ◽  
Cns Anomalies

AbstractObjectivesTo identify the most common ultrasound patterns of markers and anomalies associated with Patau syndrome (PS), to explore the efficacy of multiparameter sonographic protocols in detecting trisomy 13 (T13) and to analyze the influence of maternal age (MA) on screening performance. Methods: The project was a prospective study based on singleton pregnancies referred for a first-trimester screening examination. The scan protocol included nuchal translucency (NT), fetal heart rate (FHR), secondary ultrasound markers [nasal bone (NB), tricuspid regurgitation (TR), ductus venosus reversed a-wave (revDV)] and major anomaly findings. Results: The study population comprised 6133 pregnancies: 6077 cases of euploidy and 56 cases of T13. Statistically significant differences were found in MA, FHR, NT, absence of NB, presence of revDV, TR and single umbilical artery. Fourteen cases of T13 (25%) demonstrated no markers of aneuploidy. The best general detection rate (DR) (DR of 78.6% with an false positive rate (FPR) of 1.2%) was obtained for a cutoff of 1/300 utilizing the “NT+T13” algorithm. The logistic regression model revealed that the central nervous system (CNS) anomalies had the greatest odds ratio (of 205.4) for T13. Conclusions: The effectiveness of the multiparameter sonographic protocol used for T13 screening showed promising results in patients older than 36 years and suboptimal results in patients between 26 and 36 years old. When screening for T13 left heart defects, CNS anomalies, abdominal anomalies, FHR above the 95th percentile, increased NT, revDV and lack of NB should receive specific attention.

Oxytocin in the Corpus Luteum of the Cynomolgus Monkey (Macaca fascicularis)

Endocrinology ◽  
1984 ◽  
Vol 115 (2) ◽  
pp. 570-574 ◽  
Author(s):  
FIRYAL S. KHAN-DAWOOD ◽  
EDWARD L. MARUT ◽  
M. YUSOFF DAWOOD
Keyword(s):  
Corpus Luteum ◽  
Cynomolgus Monkey ◽  
Macaca Fascicularis
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