scholarly journals Trisomy 18p

2020 ◽  
Author(s):  
Keyword(s):  
Trisomy 18P

Two-Generation Transmission of Trisomy 18p: Prenatal Diagnosis in a Woman with Mild Intellectual Disability

2019 ◽  
Vol 157 (4) ◽  
pp. 220-226
Author(s):  
Yang Yu ◽  
Yuting Jiang ◽  
Xiaonan Hu ◽  
Hongguo Zhang ◽  
Ruizhi Liu ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Prenatal Diagnosis ◽  
Prenatal Testing ◽  
Unknown Origin ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Chromosome 15 ◽  
Derivative Chromosome ◽  
Mild Intellectual Disability ◽  
Trisomy 18P

Trisomy 18p is a rarely observed chromosomal aberration. Only 31 cases have previously been described in the literature. Trisomy 18p is associated with mild to moderate phenotypic anomalies and intellectual disability. Here, we report on a pregnant woman in whom noninvasive prenatal testing indicated a high risk of fetal trisomy 18. Prenatal diagnosis and karyotyping of the parents were performed and demonstrated that both the mother and the fetus had a derivative chromosome 15 with a segment of unknown origin. Chromosomal microarray analysis and FISH revealed a 14.9-Mb duplication of 18p and detected 3 centromeres of chromosome 18. To our knowledge, this is the first study reporting trisomy 18p due to an unbalanced translocation of 18p onto chromosome 15q showing 2-generation transmission. The results suggest that trisomy 18p can be considered a euchromatic variant.

Gene dosage effect for human triosephosphate isomerase and glyceraldehyde-3-phosphate dehydrogenase in partial trisomy 12p13 and trisomy 18p

1978 ◽  
Vol 45 (1) ◽  
pp. 63-69 ◽  
Author(s):  
Fran�oise Serville ◽  
Claudine Junien ◽  
J. Cl. Kaplan ◽  
Monique Gachet ◽  
J. Cadoux ◽  
...  
Keyword(s):  
Triosephosphate Isomerase ◽  
Gene Dosage ◽  
Partial Trisomy ◽  
Dosage Effect ◽  
Gene Dosage Effect ◽  
Trisomy 18P

9p trisomy/18p distal monosomy and multiple cutaneous leiomyomata

1985 ◽  
Vol 70 (3) ◽  
pp. 284-286 ◽  
Author(s):  
J. P. Fryns ◽  
M. Haspeslagh ◽  
A. de Mûelenaere ◽  
H. van Den Berghe
Keyword(s):  
Trisomy 18P

De novo Partial Trisomy 18p and Partial Monosomy 18q in a Patient with Anorectal Malformation

2011 ◽  
Vol 134 (3) ◽  
pp. 243-248 ◽  
Author(s):  
E. Bartels ◽  
M. Draaken ◽  
B. Kazmierczak ◽  
S. Spranger ◽  
C. Schramm ◽  
...  
Keyword(s):  
Anorectal Malformation ◽  
De Novo ◽  
Partial Trisomy ◽  
Partial Monosomy ◽  
Trisomy 18P

scholarly journals Trisomy 21 with a Small Supernumerary Marker Chromosome Derived from Chromosomes 13/21 and 18

2010 ◽  
Vol 13 (1) ◽  
pp. 55-58 ◽  
Author(s):  
S Niksic ◽  
V Deretic ◽  
G Pilic ◽  
E Ewers ◽  
M Merkas ◽  
...  
Keyword(s):  
Clinical Outcome ◽  
Trisomy 21 ◽  
Healthy Subjects ◽  
Case Reports ◽  
Marker Chromosome ◽  
Partial Trisomy ◽  
Small Supernumerary Marker Chromosome ◽  
Trisomy 18P

Trisomy 21 with a Small Supernumerary Marker Chromosome Derived from Chromosomes 13/21 and 18We describe a trisomy 21 with a small supernumerary marker chromosome (sSMC) derived from chromosomes 13/21 and 18 in which the karyotype was 48, XY, +der(13 or 21)t(13 or 21;18)(13 or 21pter→13q11 or 21q11.1::18p 11.21→18pter),+21. Of the 35 case reports in the literature for a karyotype 48, XN, +21,+mar, in only 12 was the origin of the sSMC determined by fluorescence in situ hybridization (FISH), and only one was a der(13 or 21) and none were derived from two chromosomes. The influence of the partial trisomy 18p on the clinical outcome was hard to determine, however, there are reports on clinically healthy subjects for partial trisomy 18p.

scholarly journals Partial monosomy 13q and partial trisomy 18p: case report with necropsy findings.

1986 ◽  
Vol 23 (3) ◽  
pp. 260-263 ◽  
Author(s):  
D Beneck ◽  
M A Greco ◽  
S R Wolman ◽  
L E McMorrow ◽  
V Jansen ◽  
...  
Keyword(s):  
Case Report ◽  
Partial Trisomy ◽  
Partial Monosomy ◽  
Trisomy 18P

scholarly journals Monosomy 18p and pure trisomy 18p in a family with translocation (7;18).

1983 ◽  
Vol 20 (5) ◽  
pp. 377-379 ◽  
Author(s):  
M Habedank ◽  
G Trost-Brinkhues
Keyword(s):  
Trisomy 18P
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