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Literature DB >> 10985005

Trisomy 4p and partial monosomy 18q due to paternal translocation t(4;18) (p11; q21.3).

G Thanemozhi¹, S T Santhiya, N Chandra, G Palka, S Jayam, P M Gopinath.

Abstract

A carrier status for balanced translocation in either of the parents increases the risk of congenital malformation in the offspring. A case of multiple congenital anomalies in a female newborn was found to be associated with trisomy 4p and partial monosomy 18q as a result of a reciprocal translocation, t(4; 18) (p11; q21.3) in the father. The clinical and cytogenetic findings are compared with characteristic features of trisomy 4p, monosomy 18q and two similar cases reported earlier.

Entities: Disease Gene

Mesh：

Year: 2000 PMID： 10985005 DOI： 10.1007/BF02758495

Source DB: PubMed Journal: Indian J Pediatr ISSN： 0019-5456 Impact factor: 1.967

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References

14 in total

1. [PARTIAL DELETION OF THE LONG ARMS OF THE CHROMOSOME 18].

Authors: J DE GROUCHY; P ROYER; C SALMON; M LAMY
Journal: Pathol Biol Date: 1964-05

2. Preferential loss of the paternal alleles in the 18q- syndrome.

Authors: J D Cody; J F Pierce; Z Brkanac; R Plaetke; P D Ghidoni; C I Kaye; R J Leach
Journal: Am J Med Genet Date: 1997-03-31

3. Partial trisomy 4q due to a maternal translocation: t(4;18)(q27;q21.31).

Authors: G Van Buggenhout; P H Moerman; J P Fryns
Journal: Genet Couns Date: 1997

4. [Partial trisomy for the short arm of chromosome 4 with translocation 4p-,18q+ in the father].

Authors: A Schinzel; W Schmid
Journal: Humangenetik Date: 1972

5. [Multiple abnormalities as a result of partial trisomy 4p and partial monosomy 18q by meiotic recombination].

Authors: J J Hoo; A Fuhrmann-Rieger; W Foerster; W Doppl; F Pascu; J Bauer
Journal: Monatsschr Kinderheilkd Date: 1983-03 Impact factor: 0.323

6. Leukocytes cultured from small inocula of whole blood and the preparation of metaphase chromosomes by treatment with hypotonic KCl.

Authors: D A Hungerford
Journal: Stain Technol Date: 1965-11

Trisomy 4p and partial monosomy 18q due to paternal translocation t(4;18) (p11; q21.3).

1. [PARTIAL DELETION OF THE LONG ARMS OF THE CHROMOSOME 18].

2. Preferential loss of the paternal alleles in the 18q- syndrome.

3. Partial trisomy 4q due to a maternal translocation: t(4;18)(q27;q21.31).

4. [Partial trisomy for the short arm of chromosome 4 with translocation 4p-,18q+ in the father].

5. [Multiple abnormalities as a result of partial trisomy 4p and partial monosomy 18q by meiotic recombination].

6. Leukocytes cultured from small inocula of whole blood and the preparation of metaphase chromosomes by treatment with hypotonic KCl.

7. Growth hormone deficiency associated in the 18q deletion syndrome.

8. Centric fission of chromosome no. 4 in the mother of two patients with trisomy 4p.

9. The trisomy 4p syndrome: case report and review.

Review 10. Clinical manifestations of trisomy 4p syndrome.