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Literature DB >> 2731942

Pure partial trisomy of the short arm of chromosome 5.

M O Rethoré¹, M C Blois, M Peeters, P Popowski, C Pangalos, J Lejeune.

Abstract

We describe a male infant with multiple dysmorphic features who is trisomic for chromosome segment 5p13.32----5p14.2 as a result of recombination aneusomy. His father is a balanced carrier of an inverted insertion of this chromosome segment. The clinical features of this patient are compared with those of other patients with isolated partial 5p trisomy reported in the literature.

Entities: Species

Mesh：

Year: 1989 PMID： 2731942 DOI： 10.1007/bf00291177

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

18 in total

1. [FAMILIAL SEGREGATION OF A 5-13 TRANSLOCATION DETERMINING PARTIAL MONOSOMY AND A TRISOMY OF THE SHORT ARM OF THE 5 CHROMOSOME: "CAT CRY" DISEASE AND ITS "RECEPROCAL"].

Authors: J LEJEUNE; J LAFOURCADE; R BERGER; R TURPIN
Journal: C R Hebd Seances Acad Sci Date: 1964-06-08

2. A 4-5/21-22 CHROMOSOMAL TRANSLOCATION ASSOCIATED WITH MULTIPLE CONGENITAL ANOMALIES.

Authors: K H GUSTAVSON; S C FINLEY; W H FINLEY; B JALLING
Journal: Acta Paediatr Date: 1964-03 Impact factor: 2.299

3. Familial partial trisomy 5p resulting from segregation of an insertional translocation.

Authors: K H Gustavson; P O Lundberg; P Nicol
Journal: Clin Genet Date: 1988-06 Impact factor: 4.438

4. "Complete" trisomy 5p; de novo translocation t(2;5)(q36;p11) with isochromosome 5p. Case report and review of the literature.

Authors: N J Leschot; K S Lim
Journal: Hum Genet Date: 1979-02-15 Impact factor: 4.132

Pure partial trisomy of the short arm of chromosome 5.

1. [FAMILIAL SEGREGATION OF A 5-13 TRANSLOCATION DETERMINING PARTIAL MONOSOMY AND A TRISOMY OF THE SHORT ARM OF THE 5 CHROMOSOME: "CAT CRY" DISEASE AND ITS "RECEPROCAL"].

2. A 4-5/21-22 CHROMOSOMAL TRANSLOCATION ASSOCIATED WITH MULTIPLE CONGENITAL ANOMALIES.

3. Familial partial trisomy 5p resulting from segregation of an insertional translocation.

4. "Complete" trisomy 5p; de novo translocation t(2;5)(q36;p11) with isochromosome 5p. Case report and review of the literature.

5. Presumptive direct insertion within chromosome 2 in man.

6. [On two familial cases of complex translocations].

7. Duplication 5q(5q22----5q33): from an intrachromosomal insertion.

8. A case report of a de novo tandem duplication (5p) (p14----pter).

9. A clinical syndrome associated with dup(5p).

10. Interstitial 3p deletion in a child due to paternal paracentric inserted inversion.

1. Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH.