scholarly journals A Case of Ring Chromosome 18 with Single Umbilical Artery Detected During Prenatal Period

2020 ◽  
Vol 11 (4) ◽  
pp. 217-222
Author(s):  
Nazan Eras
Keyword(s):  
Umbilical Artery ◽  
De Novo ◽  
Ring Chromosome ◽  
Clinical Findings ◽  
Chromosomal Anomalies ◽  
Prenatal Period ◽  
Chromosome 18 ◽  
Single Umbilical Artery ◽  
Craniofacial Dysmorphism ◽  
Ring Chromosome 18

Fetuses with a single umbilical artery have a risk of increased chromosomal anomalies and congenital malformations. Ring chromosomes are rare and the phenotypic and clinical characteristics of affected individuals show great variability depending on the quantity of the lost critical genes or gains during the formation of the ring or due to mitotic instability. Ring chromosome 18 [r(18)] is characterized by short stature, craniofacial dysmorphism, mental and motor retardation, autoimmune disorders, extremity anomalies, dermal lesions, structural heart malformations, and kidney abnormalities. In this study, the clinical findings of a female patient who had a single umbilical artery in the prenatal period and was diagnosed as de novo r(18) by molecular karyotype analysis were compared with those in the literature. A detailed ultrasonographic examination of the fetus with a single umbilical artery may enable the detection of additional anomalies and thus the early diagnosis of chromosomal anomalies may be possible with prenatal genetic analysis.

Identification and Molecular Characterization of a de novo Supernumerary Ring Chromosome 18 in a Patient with Klippel-Trenaunay Syndrome

2004 ◽  
Vol 68 (4) ◽  
pp. 353-361 ◽  
Author(s):  
A. Anil Timur ◽  
Azita Sadgephour ◽  
Michael Graf ◽  
Stuart Schwartz ◽  
Eric D. Libby ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
De Novo ◽  
Ring Chromosome ◽  
Chromosome 18 ◽  
Klippel Trenaunay Syndrome ◽  
Ring Chromosome 18

scholarly journals An Indian diagnostic laboratory case report on mosaic chromosome 18

2021 ◽  
Vol 7 (2) ◽  
pp. 137
Author(s):  
Prachi Sinkar ◽  
Minakshi Pandita ◽  
Sandhya Iyer
Keyword(s):  
Case Report ◽  
Cleft Lip ◽  
De Novo ◽  
Ring Chromosome ◽  
Clinical Findings ◽  
Clinical Indication ◽  
Deletion Syndrome ◽  
Chromosome 18 ◽  
Diagnostic Laboratory ◽  
Deletion Event

<p class="abstract">Distal 18q deletion syndrome, and ring chromosome 18 are structural abnormalities involving chromosome 18. Distal or terminal deletion event is characterized by deletion of a region from the terminal end of a chromosome, while in ring chromosome, the telomeric ends of both the arms of homologous chromosomes are lost, causing the sticky ends to fuse together to form a ring. Clinical findings vary in each case depending on the type of abnormality, and the region of chromosome affected. This case report focuses on the chromosome 18 abnormality detected in the proband tested with the clinical indication of cleft lip, congenital anomaly, and feeding difficulty. Parental karyotyping to rule out de-novo or abnormality due to inheritance, clinical correlation, genetic counseling and high resolution microarray was recommended.</p>

scholarly journals Ectodermal Dysplasia and Anodontia associated with Ring Chromosome 18

2016 ◽  
Vol 6 (3) ◽  
pp. 220-224 ◽  
Author(s):  
Shouvik Mandal
Keyword(s):  
Visual Impairment ◽  
Ectodermal Dysplasia ◽  
De Novo ◽  
Pulmonary Stenosis ◽  
Clinical Signs ◽  
Ring Chromosome ◽  
Signs And Symptoms ◽  
Chromosome 18 ◽  
Systemic Complications ◽  
Ring Chromosome 18

ABSTRACT Ectodermal dysplasia (ED) is a heritable condition and represents a multifarious group of diseases comprising different clinical signs and symptoms. The ED occurs as a result of disturbances in the ectoderm of the evolving embryo. Agenesis of teeth or anodontia is also the result of disturbance in this process, which prevents the proliferation of tooth buds. In the present case, an 18-month-old child with history of congenital anomalies (CAs), severely delayed developmental milestones, and mental retardation presented with complete anodontia and ED. The CA included pulmonary stenosis, pulmonary valvar regurgitation, ventricular septal defect (VSD), absence of grips, absence of head-holding capacity, inability to sit, simian crease (R), visual impairment with corectopia, blepharitis, lagophthalmos with cortical visual impairment, telecanthus, hypotrichosis, hypertelorism, high philtrum, high arched palate, degenerated nails, and depressed third toes. Routine karyotyping via peripheral blood culture revealed a ring chromosome 18, which was confirmed de novo after parental karyotyping. Although a straightforward association between r(18) and anodontia is yet to be established, it is apparent that anodontia coupled with multiple CA and systemic complications was caused by chromosomal/genetic mutations in the present case, and thus, this report strongly recommends phenotypic and genotypic examination in dental management in such a complex scenario. How to cite this article Mandal S, Kadam NN, Ram SM, Ganguly BB, Shenoy VU. Ectodermal Dysplasia and Anodontia associated with Ring Chromosome 18. J Contemp Dent 2016;6(3):220-224.

De novo mosaic ring chromosome 18 in a child with mental retardation, epilepsy and immunological problems

2011 ◽  
Vol 54 (3) ◽  
pp. 329-332 ◽  
Author(s):  
Adriana Lo-Castro ◽  
Nadia El-Malhany ◽  
Cinzia Galasso ◽  
Alberto Verrotti ◽  
Anna Maria Nardone ◽  
...  
Keyword(s):  
Mental Retardation ◽  
De Novo ◽  
Ring Chromosome ◽  
Chromosome 18 ◽  
Ring Chromosome 18

A case of ring chromosome 18 syndrome treated with a combined orthodontic-prosthodontic approach

2009 ◽  
pp. 091202121239062
Author(s):  
Takashi Ono ◽  
Mizue Okuma ◽  
Takashi Hamada ◽  
Nobuyoshi Motohashi ◽  
Keiji Moriyama
Keyword(s):  
Ring Chromosome ◽  
Chromosome 18 ◽  
Ring Chromosome 18

Varying Manifestations of Ring Chromosome 18

2016 ◽  
Vol 5 (2) ◽  
pp. 51-55
Author(s):  
Das Partha S. ◽  
◽  
Madon Prochi F. ◽  
Athalye Arundhati S. ◽  
Parikh Firuza R. ◽  
...  
Keyword(s):  
Ring Chromosome ◽  
Chromosome 18 ◽  
Ring Chromosome 18

Ring chromosome 18 in a mother and son

1986 ◽  
Vol 24 (1) ◽  
pp. 171-174 ◽  
Author(s):  
Michael A. Donlan ◽  
Cynthia R. Dolan ◽  
John M. Opitz ◽  
James F. Reynolds
Keyword(s):  
Ring Chromosome ◽  
Chromosome 18 ◽  
Ring Chromosome 18
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