Trisomy 18 caused by isochromosome 18p and 18q formation: Is there a milder phenotype?

2010 ◽  
Vol 155 (1) ◽  
pp. 225-227
Author(s):  
Giuseppe Maria Maruotti ◽  
Floriana Fabbrini ◽  
Raffaele Napolitano ◽  
Rita Genesio ◽  
Anna Conti ◽  
...  
Keyword(s):  
Trisomy 18 ◽  
Isochromosome 18P

Prenatal detection of trisomy 18 caused by isochromosome 18p and 18q formation

1999 ◽  
Vol 86 (2) ◽  
pp. 151-155 ◽  
Author(s):  
Cardi van den Berg ◽  
Leen Pijpers ◽  
Dicky J.J. Halley ◽  
Diane Van Opstal ◽  
Frans J. Los
Keyword(s):  
Trisomy 18 ◽  
Prenatal Detection ◽  
Isochromosome 18P

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

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

Second-trimester maternal serum progesterone levels in Turner syndrome with and without hydrops and in trisomy 18

1999 ◽  
Vol 19 (5) ◽  
pp. 476-479 ◽  
Author(s):  
G. M. Lambert-Messerlian ◽  
D. N. Saller ◽  
M. B. Tumber ◽  
C. A. French ◽  
C. J. Peterson ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Maternal Serum ◽  
Trisomy 18 ◽  
Second Trimester ◽  
Serum Progesterone

Umbilical cord pseudocyst in trisomy 18

1988 ◽  
Vol 8 (8) ◽  
pp. 557-563 ◽  
Author(s):  
Eric Jauniaux ◽  
Catherine Donner ◽  
Christine Thomas ◽  
Jacques Francotte ◽  
Frédéric Rodesch ◽  
...  
Keyword(s):  
Umbilical Cord ◽  
Trisomy 18

Three- and 4-Dimensional Ultrasonography in the Prenatal Evaluation of Fetal Anomalies Associated With Trisomy 18

2008 ◽  
Vol 27 (7) ◽  
pp. 1041-1051 ◽  
Author(s):  
Yu Zheng ◽  
Xiao-Dong Zhou ◽  
Ya-Li Zhu ◽  
Xi-Lin Wang ◽  
Yun-Qiu Qian ◽  
...  
Keyword(s):  
Trisomy 18 ◽  
Fetal Anomalies

P120Prenatal demonstration of polyvalvular disease in a fetus with trisomy 18

2000 ◽  
Vol 16 ◽  
pp. 92-93 ◽  
Author(s):  
U. Gembruch ◽  
U. Germer ◽  
S. Denzel ◽  
K. Gloeckner-Hofmann
Keyword(s):  
Trisomy 18
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