Glomerulocystic disease: unilateral involvement of a horseshoe kidney and in trisomy 18

1993 ◽  
Vol 7 (4) ◽  
pp. 375-378 ◽  
Author(s):  
Randall D. Craver ◽  
Joseph Ortenberg ◽  
Radhakrishna Baliga
Keyword(s):  
Horseshoe Kidney ◽  
Trisomy 18 ◽  
Glomerulocystic Disease ◽  
Unilateral Involvement

Detection of Trisomy 18 on Formalin-fixed and Paraffin-embedded Material by Fluorescence in Situ Hybridization

2000 ◽  
Vol 3 (3) ◽  
pp. 249-255 ◽  
Author(s):  
Christina Vogt Isaksen ◽  
Borgny Ytterhus ◽  
Sølve Skarsvøg
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Horseshoe Kidney ◽  
Trisomy 18 ◽  
Chromosome 8 ◽  
Chromosome 18 ◽  
Autopsy Material ◽  
Fixed Tissue ◽  
Formalin Fixed

Formalin-fixed and paraffin-embedded autopsy material from 10 fetuses and infants with unknown karyotype and anomalies suggestive of trisomy 18 were subjected to fluorescence in situ hybridization (FISH). Nuclei were extracted from the tissues and hybridized with a chromosome 18–specific centromere probe. The hybridization was successful in 9 of 10 cases. Two cases showed three hybridization signals in most of the nuclei (74% and 85%). These had anomalies frequently occurring with trisomy 18 (congenital heart defect, omphalocele, and horseshoe kidney). Two cases showed a mixture of two and three signals (47%/49% and 59%/36%), suggesting the possibility of mosaicism. One of these cases had anomalies consistent with a trisomy 18 phenotype. In the other case intrauterine growth retardation and syndactylies suggested triploidy. Hybridization with a chromosome 8–specific probe gave a distribution of two and three signals (34% and 62%, respectively). This result strengthened the suspicion of a possible triploid mosaicism. In five of the cases most of the nuclei showed two signals (85% to 88%). However, as only one type of tissue was examined for enumeration of chromosome 18, the possibility of organ mosaicism or other chromosome aberrations cannot be excluded. The FISH technique is applicable on macerated and autolysed formalin-fixed tissue, making it possible to retrospectively analyze autopsy material from aborted and stillborn fetuses and infants. This analysis contributes to a better quality of perinatal autopsies and is helpful in parental counseling.

Complicated horseshoe kidney

1983 ◽  
Vol 19 (3) ◽  
pp. 585
Author(s):  
K S Kim ◽  
S R Kim ◽  
K S Cha ◽  
S S Park
Keyword(s):  
Horseshoe Kidney

Evidence of a gene-dosage effect for the glucocorticoid receptor in trisomy 18 mice

1987 ◽  
Vol 116 (3_Suppl) ◽  
pp. S95-S96
Author(s):  
D. VOGLIOLO ◽  
H. WINKING ◽  
R. KNUPPEN
Keyword(s):  
Glucocorticoid Receptor ◽  
Gene Dosage ◽  
Dosage Effect ◽  
Trisomy 18 ◽  
Gene Dosage Effect

Endovascular Repair of Aortic Aneurysms in the Presence of a Horseshoe Kidney

1998 ◽  
Vol 5 (3) ◽  
pp. 278-281 ◽  
Author(s):  
Ian K. Loftus ◽  
Matthew M. Thompson ◽  
Guy Fishwick ◽  
Jonathan R. Boyle ◽  
Peter R. F. Bell
Keyword(s):  
Endovascular Repair ◽  
Horseshoe Kidney ◽  
Aortic Aneurysms

HORSESHOE KIDNEY

BMJ ◽  
1930 ◽  
Vol 2 (3628) ◽  
pp. 121-121
Author(s):  
R. V. Cooke
Keyword(s):  
Horseshoe Kidney

scholarly journals A Dual Gender Rare Case with 47,XY, + 18/46,XX Karyotype: Chimera or Mosaic?

2021 ◽  
Vol 11 (01) ◽  
pp. e41-e44
Author(s):  
Ravindran Ankathil ◽  
Foong Eva ◽  
Zulaikha Abu Bakar ◽  
Nazihah Mohd Yunus ◽  
Nurul Alia Nawi ◽  
...  
Keyword(s):  
Birth Weight ◽  
Blood Sample ◽  
Cell Line ◽  
Apgar Score ◽  
Cytogenetic Analysis ◽  
Rare Case ◽  
Trisomy 18 ◽  
Normal Female ◽  
Conventional Cytogenetic Analysis ◽  
Edwards Syndrome

Our objective is to report one rare case of dual gender chimerism involving abnormal male trisomy 18 and normal female karyotype. The baby was born full term with birth weight of 1.8 kg, not vigorous with light meconium stained liquor and Apgar score of 51, 85 and 910. Parents are 40 years old and mother is G6P5 + 1. The baby had clinical features of Edwards syndrome, and a blood sample was sent to Human Genome Centre, Universiti Sains Malaysia, Malaysia for cytogenetic analysis. Conventional cytogenetic analysis results showed two distinct sex discordant genetic cell lines XY and XX in 90:10 ratio. The male genetic cell line XY also showed trisomy 18 (47,XY, + 18) consistent with clinical diagnosis of male Edwards syndrome, whereas the second genetic cell line showed normal 46,XX female. The present case was reported as dual gender chimera with chi 47,XY, + 18/46,XX karyotype pattern. To the best of available knowledge, dual gender chimerism with abnormal male trisomy 18 and normal female karyotype has not been reported so far, and this case is reported for its rarity and as the first report.

Surveillance guidelines for children with trisomy 18

2021 ◽  
Author(s):  
Jeffrey W. Kepple ◽  
Kristen P. Fishler ◽  
Eric S. Peeples
Keyword(s):  
Trisomy 18
Sign in / Sign up

Export Citation Format

Share Document