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Literature DB >> 689689

Partial trisomy-5p.

E Yunis, R Silva, H Egel, R Zúñiga, O M Torres de Caballero, E Ramirez, H Poveda de Ruiz.

Abstract

Two sibs with partial trisomy-5p are reported. Their father is the carrier of a balanced translocation 46,XY,t(4q+;5p-). Twelve cases of partial trisomy-5p--including our two patients--have been reported. The most common abnormalities found were mental retardation, short stature, dolichocephaly, prominent nasal bridge, prognathism, seizures, hypotonia, ear abnormalities, increased ulnar loops on the fingertips, and cryptorchidism in affected males.

Entities: Disease Species

Mesh：

Year: 1978 PMID： 689689 DOI： 10.1007/BF00293601

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

7 in total

1. [Reverse type of cri du chat disease: 5 p trisomy].

Authors: C Stoll; M O Rethore; C Laurent; J Lejeune
Journal: Arch Fr Pediatr Date: 1975 Jun-Jul

2. [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

3. A partial trisomy 5p syndrome.

Authors: J M Opitz; K Patau
Journal: Birth Defects Orig Artic Ser Date: 1975

4. [Segregation of a balanced translocation t(5p-;Gp+)].

Authors: B Noel; B Quack; M Thiriet
Journal: Ann Genet Date: 1968-12

5. Translocation heterozygosis: a cause of five cases of the cri du chat syndrome and two cases with a duplication of chromosome number five in three families.

Authors: A De Capoa; D Warburton; W R Breg; D A Miller; O J Miller
Journal: Am J Hum Genet Date: 1967-07 Impact factor: 11.025

6. Partial trisomy 5 with a carrier parent t(5p-;9p+).

Authors: P Monteleone; J Monteleone; G Sekhon; W Hamilton; S L Volk; J Grzegocki; M Tietjens
Journal: Clin Genet Date: 1976-04 Impact factor: 4.438

7. [Genetic and clinical study of a family of 7 children in which 3 persons have "crying cat syndrome"].

Authors: C Laurent; J M Robert
Journal: Ann Genet Date: 1966-09

7 in total

5 in total

Partial trisomy-5p.

1. [Reverse type of cri du chat disease: 5 p trisomy].

2. [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"].

3. A partial trisomy 5p syndrome.

4. [Segregation of a balanced translocation t(5p-;Gp+)].

5. Translocation heterozygosis: a cause of five cases of the cri du chat syndrome and two cases with a duplication of chromosome number five in three families.

6. Partial trisomy 5 with a carrier parent t(5p-;9p+).

7. [Genetic and clinical study of a family of 7 children in which 3 persons have "crying cat syndrome"].

Review 1. Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations.

Review 2. Gene-rich chromosome regions and autosomal trisomy. A case of chromosome 3 trisomy mosaicism.

3. Cytogenetic recombinants from a female carrying a paracentric inversion of the short arm of chromosome number 5.

4. Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene-diagram drawing.

5. Trisomy 5p with bilateral congenital diaphragmatic hernia: a case report.