Literature DB >> 2425620

De novo partial duplication of 17p [dup(17)(p12----p11.2)]: clinical report.

R E Magenis, M G Brown, L Allen, J Reiss.   

Abstract

Duplication of band p11.2 and a small proximal portion of band p12 of chromosome 17 was noted in an infant with unusual facial appearance and left calcaneovalgus deformity. Developmental delay was documented over time. Only one other similar case has been found in the literature, but deletion of the same region is known in nine recently described cases [Smith et al, 1986]. This suggests that abnormalities of this small region of 17p are relatively common and only recently detectable with modern high-resolution techniques.

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Year:  1986        PMID: 2425620     DOI: 10.1002/ajmg.1320240304

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  10 in total

1.  Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations.

Authors:  Zhishuo Ou; Małgorzata Jarmuz; Steven P Sparagana; Jacques Michaud; Jean-Claude Décarie; Svetlana A Yatsenko; Beata Nowakowska; Patti Furman; Chad A Shaw; Lisa G Shaffer; James R Lupski; A Craig Chinault; Sau W Cheung; Paweł Stankiewicz
Journal:  Hum Genet       Date:  2006-06-22       Impact factor: 4.132

Review 2.  Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith-Magenis and Potocki-Lupski Syndromes.

Authors:  Juanita Neira-Fresneda; Lorraine Potocki
Journal:  J Pediatr Genet       Date:  2015-09-28

3.  Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.

Authors:  Feng Zhang; Lorraine Potocki; Jacinda B Sampson; Pengfei Liu; Amarilis Sanchez-Valle; Patricia Robbins-Furman; Alicia Delicado Navarro; Patricia G Wheeler; J Edward Spence; Campbell K Brasington; Marjorie A Withers; James R Lupski
Journal:  Am J Hum Genet       Date:  2010-02-25       Impact factor: 11.025

4.  Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.

Authors:  Lorraine Potocki; Weimin Bi; Diane Treadwell-Deering; Claudia M B Carvalho; Anna Eifert; Ellen M Friedman; Daniel Glaze; Kevin Krull; Jennifer A Lee; Richard Alan Lewis; Roberto Mendoza-Londono; Patricia Robbins-Furman; Chad Shaw; Xin Shi; George Weissenberger; Marjorie Withers; Svetlana A Yatsenko; Elaine H Zackai; Pawel Stankiewicz; James R Lupski
Journal:  Am J Hum Genet       Date:  2007-02-26       Impact factor: 11.025

5.  Hypertelorism in Charcot-Marie-Tooth disease 1A from the common PMP22 duplication: A Case Report.

Authors:  Josef Finsterer
Journal:  Oman Med J       Date:  2012-03

6.  DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome.

Authors:  L Potocki; K S Chen; T Koeuth; J Killian; S T Iannaccone; S K Shapira; C D Kashork; A S Spikes; L G Shaffer; J R Lupski
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

7.  Small marker chromosomes in two patients with segmental aneusomy for proximal 17p.

Authors:  Christine J Shaw; Pawel Stankiewicz; Gabriel Bien-Willner; Scott C Bello; Chad A Shaw; Marta Carrera; Luis Perez Jurado; Xavier Estivill; James R Lupski
Journal:  Hum Genet       Date:  2004-04-20       Impact factor: 4.132

8.  Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

Authors:  F Greenberg; V Guzzetta; R Montes de Oca-Luna; R E Magenis; A C Smith; S F Richter; I Kondo; W B Dobyns; P I Patel; J R Lupski
Journal:  Am J Hum Genet       Date:  1991-12       Impact factor: 11.025

9.  Charcot-Marie-tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2-->12.

Authors:  M Upadhyaya; S H Roberts; J Farnham; J C MacMillan; A Clarke; J P Heath; I C Hodges; P S Harper
Journal:  Hum Genet       Date:  1993-05       Impact factor: 4.132

10.  Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation.

Authors:  A-C Thuresson; M-L Bondeson; C Edeby; P Ellis; C Langford; J P Dumanski; G Annerén
Journal:  Cytogenet Genome Res       Date:  2007       Impact factor: 1.636

  10 in total

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