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Literature DB >> 8423612

Mosaicism for duplication 12q (12q13-->q24.2) in a dysmorphic male infant.

Abstract

We report the clinical findings in a boy with mosaicism for a duplication of chromosome 12q13.1-->q24.2. His clinical characteristics are very similar to previously reported mosaic duplications of the distal long arm of 12, as well as several cases with non-mosaic duplications. It is proposed that this represents a clinically distinguishable syndrome for 12q duplication, in mosaic or non-mosaic form.

Entities: Species

Mesh：

Year: 1993 PMID： 8423612 PMCID： PMC1016239 DOI： 10.1136/jmg.30.1.70

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

19 in total

Review 1. Twinning and mitotic crossing-over: some possibilities and their implications.

Authors: G B Côté; J Gyftodimou
Journal: Am J Hum Genet Date: 1991-07 Impact factor: 11.025

2. Partial trisomy 12 in a mentally retarded boy and translocation (12;21) in his mother.

Authors: N Hobolth; P Jacobsen; M Mikkelsen
Journal: J Med Genet Date: 1974-09 Impact factor: 6.318

3. Partial trisomy 12q: a clinically recognisable syndrome. Genetic risks associated with translocations of chromosome 12q.

Authors: N R Pratt; D T Bulugahapitiya
Journal: J Med Genet Date: 1983-04 Impact factor: 6.318

4. First report of mosaic trisomy 12 in a liveborn individual.

Authors: S R Patil; E P Bosch; J W Hanson
Journal: Am J Med Genet Date: 1983-03

5. Partial trisomy 12q: report of a case and review.

Authors: S H Roberts; T Mattina; K M Laurence; G Sorge; L Pavone
Journal: J Med Genet Date: 1981-12 Impact factor: 6.318

6. Partial trisomy 12q.

Authors: B Zabel; W Baumann
Journal: J Med Genet Date: 1981-04 Impact factor: 6.318

7. Translocations involving chromosome 12. I. A report of a 12,21 translocation in a woman with recurrent abortions, and a study of the breakpoints and modes of ascertainment of translocations involving chromosome 12.

Authors: J H Ford; R H Rofe; R P Pavy
Journal: Hum Genet Date: 1981 Impact factor: 4.132

5. Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism.

Authors: Caroline Robberecht; Thierry Voet; Gülen E Utine; Albert Schinzel; Nicole de Leeuw; Jean-Pierre Fryns; Joris Vermeesch
Journal: Mol Cytogenet Date: 2012-04-10 Impact factor: 2.009

5 in total

Mosaicism for duplication 12q (12q13-->q24.2) in a dysmorphic male infant.

Review 1. Twinning and mitotic crossing-over: some possibilities and their implications.

2. Partial trisomy 12 in a mentally retarded boy and translocation (12;21) in his mother.

3. Partial trisomy 12q: a clinically recognisable syndrome. Genetic risks associated with translocations of chromosome 12q.

4. First report of mosaic trisomy 12 in a liveborn individual.

5. Partial trisomy 12q: report of a case and review.

6. Partial trisomy 12q.

7. Translocations involving chromosome 12. I. A report of a 12,21 translocation in a woman with recurrent abortions, and a study of the breakpoints and modes of ascertainment of translocations involving chromosome 12.

8. Partial trisomy 12q associated with a familial translocation.

9. Malformation syndrome of duplication 12q24.1 leads to qter.

10. Duplication 12q mosaicism in two unrelated patients with a similar syndrome.

1. Mosaicism with a normal cell line and an autosomal structural rearrangement.

2. Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome.

3. TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype.

4. Synergistic activation of cardiac genes by myocardin and Tbx5.

5. Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism.