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Literature DB >> 7815424

Maternal uniparental disomy of chromosome 13 in a phenotypically normal child.

H Slater¹, J H Shaw, G Dawson, A Bankier, S M Forrest.

Abstract

A case of maternal uniparental disomy of chromosome 13 is described. The subject is a phenotypically normal male who inherited a t(13;13)(p11.2;p11.2) from his mother who is a carrier of this translocation. The mother was ascertained through a history of recurrent abortion and is phenotypically normal. The translocation in both subjects was studied by cytogenetic and DNA analysis and appears to be a true dicentric isochromosome. These findings show that maternal uniparental disomy of chromosome 13 has had no pathological consequences and suggests that there is no imprinting of genes on maternally derived chromosome 13.

Entities: Disease Species

Mesh：

Year: 1994 PMID： 7815424 PMCID： PMC1050029 DOI： 10.1136/jmg.31.8.644

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

19 in total

1. A second-generation linkage map of the human genome.

Authors: J Weissenbach; G Gyapay; C Dib; A Vignal; J Morissette; P Millasseau; G Vaysseix; M Lathrop
Journal: Nature Date: 1992-10-29 Impact factor: 49.962

2. Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier.

Authors: J C Wang; M B Passage; P H Yen; L J Shapiro; T K Mohandas
Journal: Am J Hum Genet Date: 1991-06 Impact factor: 11.025

3. Confined placental mosaicism and intrauterine development.

Authors: D K Kalousek
Journal: Pediatr Pathol Date: 1990

4. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.

Authors: R K Saiki; D H Gelfand; S Stoffel; S J Scharf; R Higuchi; G T Horn; K B Mullis; H A Erlich
Journal: Science Date: 1988-01-29 Impact factor: 47.728

5. Maternal origin of a de novo balanced t(21q21q) identified by ets-2 polymorphism.

Authors: N Créau-Goldberg; A Gegonne; J Delabar; C Cochet; M O Cabanis; D Stehelin; C Turleau; J de Grouchy
Journal: Hum Genet Date: 1987-08 Impact factor: 4.132

6. Maternal uniparental disomy for chromosome 14.

Authors: I K Temple; A Cockwell; T Hassold; D Pettay; P Jacobs
Journal: J Med Genet Date: 1991-08 Impact factor: 6.318

7. A functional marker centromere with no detectable alpha-satellite, satellite III, or CENP-B protein: activation of a latent centromere?

Authors: L E Voullaire; H R Slater; V Petrovic; K H Choo
Journal: Am J Hum Genet Date: 1993-06 Impact factor: 11.025

8. Uniparental disomy for chromosome 16 in humans.

Authors: D K Kalousek; S Langlois; I Barrett; I Yam; D R Wilson; P N Howard-Peebles; M P Johnson; E Giorgiutti
Journal: Am J Hum Genet Date: 1993-01 Impact factor: 11.025

9. Paternal uniparental disomy in a child with a balanced 15;15 translocation and Angelman syndrome.

Authors: S B Freeman; K M May; D Pettay; P M Fernhoff; T J Hassold
Journal: Am J Med Genet Date: 1993-03-01

10. Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy.

Authors: L Pentao; R A Lewis; D H Ledbetter; P I Patel; J R Lupski
Journal: Am J Hum Genet Date: 1992-04 Impact factor: 11.025

7 in total

1. Large deletions and uniparental disomy detected by SNP arrays in adults with thoracic aortic aneurysms and dissections.

Authors: Siddharth Prakash; Scott A LeMaire; Molly Bray; Dianna M Milewicz; John W Belmont
Journal: Am J Med Genet A Date: 2010-09 Impact factor: 2.802

Maternal uniparental disomy of chromosome 13 in a phenotypically normal child.

1. A second-generation linkage map of the human genome.

2. Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier.

3. Confined placental mosaicism and intrauterine development.

4. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.

5. Maternal origin of a de novo balanced t(21q21q) identified by ets-2 polymorphism.

6. Maternal uniparental disomy for chromosome 14.

7. A functional marker centromere with no detectable alpha-satellite, satellite III, or CENP-B protein: activation of a latent centromere?

8. Uniparental disomy for chromosome 16 in humans.

9. Paternal uniparental disomy in a child with a balanced 15;15 translocation and Angelman syndrome.

10. Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy.

1. Large deletions and uniparental disomy detected by SNP arrays in adults with thoracic aortic aneurysms and dissections.

2. Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13.

3. UPD 13: no indication of maternal or paternal imprinting of genes on chromosome 13.

Review 4. Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements.

5. The 13q- syndrome: the molecular definition of a critical deletion region in band 13q32.

Review 6. Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7.

7. Isochromosome 13 in a patient with childhood-onset schizophrenia, ADHD, and motor tic disorder.