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Literature DB >> 839503

Physical retardation is associated with ring chromosome mosaicism: 46, XX,r(10)/45, XX,10 minus.

Abstract

Cytogenetic analysis of peripheral leucocytes of a 9-year-old girl presenting with retardation of physical development indicated mosaicism for a ring 10 chromosome. Serum aspartate transaminase was within normal limits. A survey of eight markers failed to show syntenic relations with chromosome 10.

Entities: Disease Species

Mesh：

Substances：

Year: 1977 PMID： 839503 PMCID： PMC1013509 DOI： 10.1136/jmg.14.1.61

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

7 in total

1. Mental retardation and congenital malformations associated with a ring chromosome 6.

Authors: K Fried; M Rosenblatt; G Mundel; R Krikler
Journal: Clin Genet Date: 1975-03 Impact factor: 4.438

2. Developmental abnormalities associated with a ring chromosome 6.

Authors: C M Moore; R H Heller; G H Thomas
Journal: J Med Genet Date: 1973-09 Impact factor: 6.318

3. The use of proteolytic enzymes for the mapping of structural rearrangements in the chromosomes of man.

Authors: M Seabright
Journal: Chromosoma Date: 1972 Impact factor: 4.316

4. A group-C ring chromosome in a mentally deficient male.

Authors: A J Therkelsen; B Moller; K Henningsen
Journal: J Med Genet Date: 1971-06 Impact factor: 6.318

5. Familial occurrence of congenital malformations and ring chromosome (46,XX,Cr).

Authors: G Gacs; D Schuler; M Sellyei
Journal: J Med Genet Date: 1970-06 Impact factor: 6.318

6. Ring chromosome 7 with variable phenotypic expression.

Authors: E H Zackai; W R Breg
Journal: Cytogenet Cell Genet Date: 1973

7. Two cases with a C-group ring autosome.

Authors: L Atkins; S S Pant; G W Hazard; E M Ouellette
Journal: Ann Hum Genet Date: 1966-07 Impact factor: 1.670

7 in total

11 in total

1. Malformative syndrome associated with a ring 10 chromosome and a translocated 10q/19 chromosome.

Authors: J P Fryns; K De Boeck; J Jaeken; H van den Berghe
Journal: Hum Genet Date: 1978-08-31 Impact factor: 4.132

2. Ring chromosome 10 associated with multiple congenital malformations.

Authors: G Simoni; F Rossella; L Dalprà; G Visconti; C Piria-Schwarz
Journal: Hum Genet Date: 1979-10-01 Impact factor: 4.132

3. A newborn with ring chromosome 10, aganglionic megacolon, and renal hypoplasia.

Authors: G Calabrese; P G Franchi; L Stuppia; R Mingarelli; C Rossi; L Ramenghi; M Marino; E Morizio; R Peila; A Antonucci
Journal: J Med Genet Date: 1994-10 Impact factor: 6.318

4. Ring 10 chromosome: 46,XX,r10(p15q26).

Authors: R S Sparkes; S M Ling; H Muller
Journal: Hum Genet Date: 1978-09-19 Impact factor: 4.132

5. Ring chromosome 10:46,XX,r(10)(p15 leads to q26).

Authors: R Tsukino; N Tsuda; T Dezawa; T Ishii; M Koike
Journal: J Med Genet Date: 1980-04 Impact factor: 6.318

6. Monosomy 10qter.

Authors: C Turleau; J de Grouchy; G Ponsot; D Bouygues
Journal: Hum Genet Date: 1979-04-05 Impact factor: 4.132

Review 7. Ring chromosome 10: report on two patients and review of the literature.

Authors: Roberta Santos Guilherme; Chong Ae Kim; Luis Garcia Alonso; Rachel S Honjo; Vera Ayres Meloni; Denise Maria Christofolini; Leslie Domenici Kulikowski; Maria Isabel Melaragno
Journal: J Appl Genet Date: 2012-12-18 Impact factor: 3.240

8. Partial monosomy of chromosome 10 short arms.

Authors: A Gencík; U Brönniman; R Tobler; P Auf der Maur
Journal: J Med Genet Date: 1983-04 Impact factor: 6.318

Review 9. Distribution of break points in human structural rearrangements.

Authors: Y Nakagome; T Matsubara; H Fujita
Journal: Am J Hum Genet Date: 1983-03 Impact factor: 11.025

10. Clinical, cytogenetic and molecular study of a case of ring chromosome 10.

Authors: Živilė Čiuladaitė; Birutė Burnytė; Danutė Vansevičiūtė; Evelina Dagytė; Vaidutis Kučinskas; Algirdas Utkus
Journal: Mol Cytogenet Date: 2015-04-21 Impact factor: 2.009