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Literature DB >> 7262872

Trisomy 18q. A case report and review of karyotype-phenotype correlations.

R Matsuoka, S Matsuyama, Y Yamamoto, Y Kuroki, I Matsui.

Abstract

A 2-month-old male infant with partial trisomy 18, 46,XY,der(4),t(q35;q21.1)mat, was presented. Except for atypical facies, he had many of the significant signs of full trisomy 18. Phenotype-karyotype correlations based on the data of our case and those from the literature were discussed. Major features of trisomy 18, such as congenital heart disease, early death, and external malformations, appear to be consistently related to the trisomic state of 18q21. Characteristic congenital heart diseases in trisomy 18 were polyvalvular disease in 100%, membranous ventricular septal defect, patent ductus arteriosus, and high take-off of the right coronary ostium. Pathology of the heart did not differ between full and partial 18-trisomy cases.

Entities: Disease Species

Mesh：

Year: 1981 PMID： 7262872 DOI： 10.1007/BF00271173

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

17 in total

1. Further delineation of the clinical picture of trisomy for the distal segment of chromosome 13: report of three cases.

Authors: A Schinzel; K Hayashi; W Schmid
Journal: Hum Genet Date: 1976-04-15 Impact factor: 4.132

2. Trisomy for the long arm of the chromosome 18 due to de novo 18/21 translocation.

Authors: J Kameyama; M Tsurusawa; H Nakano; S Shimizu; R Okuda
Journal: Jinrui Idengaku Zasshi Date: 1977-06

3. Partial trisomy 18(q11 leads to qter) in an infant and aborted fetus resulting from a balanced paternal translocation t(13;18)(q32:q11).

Authors: A Rosenmann; M Isacson; R Cohen; M Segal; M M Cohen
Journal: Ann Genet Date: 1978-03

4. An additional case of partial trisomy 18.

Authors: E C Jenkins; R G Weed; M M Sandstrom
Journal: Ann Genet Date: 1974-03

5. Trisomy 18 with an E-G translocation (46,XY,21-t(21q18q)+). Identification of the component chromosomes by several laboratory techniques.

Authors: M M Cohen; A B Finch; H A Lubs
Journal: Ann Genet Date: 1972-03

6. Trisomy 17-18 syndrome. Report of a case with diffuse myocardial fibrosis and review of cardiovascular abnormalities.

Authors: V A Kurien; M Duke
Journal: Am J Cardiol Date: 1968-03 Impact factor: 2.778

7. Inclusion of satellites in an 18/21 translocation chromosome shown by ammonical-silver staining (sat-banding) in case of partial trisomy 18.

Authors: R L Neu; C C Ortega; G A Barg; W Pinto; L I Gardner; W M Howell; T E Denton
Journal: J Med Genet Date: 1976-12 Impact factor: 6.318

8. Partial 18 trisomy (with 47 chromosomes) resulting from a familial maternal translocation.

Authors: K Fried; A Bar-Yochai; M Rosenblatt; G Mundel
Journal: J Med Genet Date: 1978-02 Impact factor: 6.318

9. Pseudohermaphroditism with clinical features of trisomy 19 in an infant trisomic for parts of chromosomes 16 and 18: 47,XY,der(18),t(16;18)(p12;q11)mat.

Authors: L M Stern; A R Mureh
Journal: J Med Genet Date: 1975-09 Impact factor: 6.318

10. Partial trisomy 18 in a family with a translocation (18;21)(q21;q22).

Authors: M Niazi; D V Coleman; P Saldaña-Garcia
Journal: J Med Genet Date: 1978-04 Impact factor: 6.318

8 in total

Review 1. Partial trisomy 18q.

Authors: M Elbistan; S Kucukoduk; N Kara
Journal: Indian J Pediatr Date: 1996 May-Jun Impact factor: 1.967

Trisomy 18q. A case report and review of karyotype-phenotype correlations.

1. Further delineation of the clinical picture of trisomy for the distal segment of chromosome 13: report of three cases.

2. Trisomy for the long arm of the chromosome 18 due to de novo 18/21 translocation.

3. Partial trisomy 18(q11 leads to qter) in an infant and aborted fetus resulting from a balanced paternal translocation t(13;18)(q32:q11).

4. An additional case of partial trisomy 18.

5. Trisomy 18 with an E-G translocation (46,XY,21-t(21q18q)+). Identification of the component chromosomes by several laboratory techniques.

6. Trisomy 17-18 syndrome. Report of a case with diffuse myocardial fibrosis and review of cardiovascular abnormalities.

7. Inclusion of satellites in an 18/21 translocation chromosome shown by ammonical-silver staining (sat-banding) in case of partial trisomy 18.

8. Partial 18 trisomy (with 47 chromosomes) resulting from a familial maternal translocation.

9. Pseudohermaphroditism with clinical features of trisomy 19 in an infant trisomic for parts of chromosomes 16 and 18: 47,XY,der(18),t(16;18)(p12;q11)mat.

10. Partial trisomy 18 in a family with a translocation (18;21)(q21;q22).

Review 1. Partial trisomy 18q.

2. Bilateral semilunar valve dysplasia in a patient with inverted duplication 2p25-22.

3. Anesthetic management of a patient with partial trisomy 18.

4. Prenatal detection of monosomy 18p and trisomy 18q mosaicism with unexpected fetal phenotype.

5. Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18.

6. The crucial band for phenotype of trisomy 18.

7. Transcriptomic analysis of cell-free fetal RNA suggests a specific molecular phenotype in trisomy 18.

Review 8. Clinical and molecular evaluation of four patients with partial duplications of the long arm of chromosome 18.