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Literature DB >> 1270071

Partial and complete trisomy 9: delineation of a trisomy 9 syndrome.

Abstract

Two infants with trisomy involving chromosome 9 are described. One had complete trisomy 9 and the other karyotype 47,XX,+der(9),t(7;9) (p22;q32)mat. A trisomy 9 syndrome is delineated, consisting of features of the trisomy 9p syndrome and various other malformations. These include abnormalities of the cardiovascular and urogenital systems, cranial suture anomalies, dislocation of the hips and knees and early death. A possible relationship of some of these findings to regions of 9q involved in cases of partial trisomy 9 is suggested.

Entities: Disease Species

Mesh：

Year: 1976 PMID： 1270071 DOI： 10.1007/BF00291495

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

18 in total

Partial and complete trisomy 9: delineation of a trisomy 9 syndrome.

1. Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring.

2. Partial trisomy 9q: a new syndrome.

3. [Trisomy 9p : 2 further cases].

4. A case of trisomy 9.

5. Trisomy 9 mosaicism in a newborn infant with multiple malformations.

6. [4 cases of trisomy for the short arm of chromosome 9. Individualization of a new morbid entity].

7. Trisomy C in an infant with polycystic kidneys and other malformations.

8. [Partial trisonomy C9 in a case of balanced maternal B4-C9 translocation].

9. Possible complex translocation t(9;14;13) (q12;pl?;Q31) in mother of a child with 9-p trisomy syndrome.

10. Mosaic-trisomy and pericentric inversion of chromosome 9 in a malformed boy.

1. Trisomy 9 associated with an enlarged 9qh segment in a liveborn.

2. De novo trisomy 9pter leads to q13.

3. Familial trisomy 9p and spinal muscular atrophy: clinical, cytogenetic and embryological findings.

4. Partial 9q trisomy associated with a 9,21 translocation.

5. Familial reciprocal translocation t(9;13)(p11;p12) investigated by silver staining and in situ hybridisation.

6. Trisomy 9p due to unusual maternal translocation (3;9).

7. t(9/22) with centric fission and NOR translocation leading to a case of pure 9p trisomy in the offspring.

8. Complete trisomy 9 in two liveborn infants.

9. Report of a new case and clinical delineation of mosaic trisomy 9 syndrome.

Review 10. Pericentric inversions. Problems and significance for clinical genetics.