scholarly journals A Rare Case of Mosaic Unbalanced Non-Robertsonian Translocation Involving Chromosomes 15 and 22 with Congenital Abnormalities in Monozygotic Twins

2019 ◽  
Vol 10 (6) ◽  
pp. 320-326
Author(s):  
Emine I. Atli ◽  
Engin Atli ◽  
Sinem Yalcintepe ◽  
Hakan Gurkan
Author(s):  
R. Uma Rani

The udder is a very important organ and has economic value in dairy cattle. Though highly vulnerable to various disease conditions, e.g. mastitis, congenital anomalies in the udder are of rare occurrence (Dandale et al., 2013). Congenital abnormalities of the mammary system in cows comprise absence of teats, glands, supernumerary teats and imperforate teats. Absence of teat is extremely rare, but isolated cases in which the teats were only represented by slight eminences have been met with (O’ Connor, 1980). Athelia was reported in buffaloes by Sailendra and Sandhya (1998) and Vidyasagar (2009) and in a Japanese black heifer by Ghanem et al. (2011). In the present paper, a rare case of athelia in a Jersey crossbred cow and its therapeutic management by permanent cessation of lactation is reported.


2017 ◽  
Vol 45 (05) ◽  
pp. 296-301
Author(s):  
Holger Behn ◽  
Markus Freick ◽  
Jim Weber

SummaryCraniofacial duplication abnormity is a rare phenomenon in buiatric practice. This report attends to a male German Holstein calf which could be classified as a diprosopic iniodymus. A fetus exhibiting a doubled face was delivered after fetotomy. To our knowledge, this is the first description of diprosopiasis with two cranial cavities as well as two separate encephala in a calf showing the potential extent of duplication. Throughout this work also the question is answered of whether this malformation in a bovine species arose from one embryo or rather, there is a dizygotic background by genotyping of tissue samples from both parts of the diprosopus. Regarding etiology, not only hereditary dispositions including among others a failed function of the signaling molecule Sonic hedgehog mediating regulation of craniofacial morphogenesis, but also incompletely separated monozygotic twins are discussed.


2017 ◽  
Vol 34 (4) ◽  
pp. 279-281
Author(s):  
Juan Alberto Corbera ◽  
Immaculada Morales ◽  
Sergio Martin ◽  
Alberto Arencibia ◽  
Carlos Gutierrez

A rare case of congenital supernumerary teeth, also known as hyperdontia, observed in a healthy 8-month-old female ewe is presented. The congenital defect consisted of the presence of 2 incisor teeth embedded in the lateral areas of the dental pad. The anomaly was found during a routine physical examination and no other congenital abnormalities were found in the patient. No prior congenital abnormalities had been seen in the herd and the study of possible associated teratogenic factors was inconclusive. To the authors’ knowledge, this ovine odontogenic abnormality has not been described in the literature and appears to be an extraordinarily rare condition.


2021 ◽  
Vol 57 (3) ◽  
pp. 267
Author(s):  
Muhammad Fawzi Zulfikar ◽  
Wahjoe Djatisoesanto ◽  
Tarmono Tarmono

The multiseptate bladder is a congenital bladder anomaly that is very rare and often accompanied by other congenital abnormalities. This condition could result in intravesical obstruction and kidney failure in more serious conditions. A 3-year-old girl without any complaint was consulted by the Pediatric Surgery Department with postoperative cloacal type malformation anorectal (MAR) postero-sagittal anorecto-vagino-urethroplasty (PSARVUP) + sigmoidectomy. Magnetic Resonance Imaging (MRI) of the pelvis showed the appearance of four interconnected multiple fluid lesions. Cystoscopy was performed and found many septa with varied positions and forms. From the cystography during the operation, it was seen duplication of the right and left bladder. There was no further operative treatment in the field of urology because no urinary tract obstruction and normal renal function were found in this study.


Author(s):  
Edouard N’Guessan ◽  
Roseline Kouame N’Guessan ◽  
Franck Gbeli ◽  
Privat Guie

Dicephalic parapagus are one of the rare forms of conjoined twins. Their prognosis is usually very poor. Early prenatal diagnosis of these serious congenital abnormalities remains a real challenge for health systems in the low-income countries. The late antenatal diagnosis of a case of this abnormality was presented. The diagnosis was made at the 33rd week on the only ultrasound performed during the pregnancy. The pregnancy was interrupted with the agreement of the couple and delivery was performed by caesarean section. 


2019 ◽  
Vol 12 (3) ◽  
pp. 255
Author(s):  
Paresh Singhal ◽  
Ajay Malik ◽  
Nikita Naredi ◽  
Gurmeet Pranaya ◽  
Amit Agrawal

2020 ◽  
Vol 99 (6) ◽  
pp. 294-296
Author(s):  
M.O. Gulya ◽  
◽  
Yu.V. Varlamova ◽  
O.S. Yanulevich ◽  
N.A. Ilyina ◽  
...  

Congenital pulmonary venolobar syndrome (CPVS) is one of the most rare and difficult to diagnose combination of vascular abnormalities, combining venous, arterial, pulmonary and cardiac pathology. About a quarter of patients with CPVS have concomitant congenital heart defects (coarctation of aorta, tetralogy of Fallot, patent ductus arteriosus or ventricular septal defect). Other congenital abnormalities include bronchogenic cysts, horseshoe lung, additional diaphragm, and hernias. There are descriptions of isolated cases of this disease in the literature. The article represents an extremely rare case of CPVS associated with intra-thoracic heterotopic liver tissue in an 8-month-old boy.


2020 ◽  
Vol 13 (1) ◽  
Author(s):  
Tanja Burnik Papler ◽  
Eda Vrtacnik Bokal ◽  
Nina Jančar

Abstract Background Acute myeloid leukemia (AML) in monozygotic twins is a rare event and, until now, only a few cases have been reported. Due to improved oncological treatment and cancer survival rates, quality of life considerations post-treatment have become an important aspect in the treatment regime. The ability to have their own biological children is considered one of the most important indicators of quality of life by cancer survivors. As fertility following oncological treatment is often impaired, fertility preservation methods should be offered to these patients prior to the treatment. Here, we present a very rare case in which we can in vivo observe the impact of oncological treatment on female fertility when applied before and after puberty. Case presentation This is a very rare case of concordant AML in monozygotic twin sisters. Twin A became sick at the age of 21 months. She was treated with cytostatic medications and then underwent bone marrow transplantation (BMT), the donor being her twin sister B. After 27 years, she is disease free and has regular periods. After trying to conceive for 4 years, she was seen by an infertility specialist. She underwent hysteroscopic uterine septum removal and laparoscopic enucleation of bilateral paraovarian cysts. Following those procedures, she immediately conceived naturally. Twin B became sick at 15 years of age. She was treated with chemotherapy and cranial radiation and relapsed after 10 years. She then received chemotherapy and had a BMT. Until relapse, she had normal menstrual cycles. After the second treatment she became amenorrhoeic and is now part of an oocyte donation program. Conclusions This is a case of AML in monozygotic twins who, after treatment, have completely different reproductive potential. They both received oncological treatment, and one of them conceived conceived naturally while the other suffered premature ovarian failure and is not able to have a biological child. Based on the outcome of this case, it appears that the pre-pubertal state truly serves as protection against ovarian failure.


Author(s):  
Tejashri Shrotri ◽  
Meenakshi Ahuja

Congenital abnormalities of fallopian tube are rare among the abnormalities of female urogenital system. Bilateral absence of fallopian tube segments is an extremely uncommon condition. The authors report one such rare case diagnosed during diagnostic laparoscopy during evaluation of infertility. On one side, it was completely absent; while on the other side, it was partially absent simulating a formal tubal ligation. To the best of authors knowledge, this is an extremely unusual condition with very few reports available in literature.


2016 ◽  
Vol 2016 ◽  
pp. 1-4 ◽  
Author(s):  
Susumu Araki ◽  
Mitsuhiko Kubo ◽  
Kosuke Kumagai ◽  
Shinji Imai

Reports of congenital abnormalities of the lateral meniscus include discoid meniscus, accessory meniscus, double-layered meniscus, and ring-shaped meniscus. Particularly, only a few cases of double-layered meniscus have been reported. We report a case of double-layered lateral meniscus, in which an additional semicircular meniscus was observed under the normal lateral meniscus. The accessory hemimeniscus was resected by means of arthroscopic surgery. This case demonstrates an interesting and extremely rare anatomical abnormality of the lateral meniscus.


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