Literature DB >> 3430549

Deletion 15q21.1----q22.1 resulting from a paternal insertion into chromosome 5.

M Y Yip1, M Selikowitz, N Don, A Kovacic, S Purvis-Smith, P R Lam-Po-Tang.   

Abstract

A 15 month old boy with an interstitial deletion 15q derived from a paternal insertion (5;15)(q31.3;q21.1q22.1) is described and compared with one other reported case. A beak like nose with hypoplastic nasal alae, a thin upper lip, failure to thrive in infancy with later onset of obesity, and severe mental retardation are features common to both.

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Year:  1987        PMID： 3430549      PMCID： PMC1050353          DOI： 10.1136/jmg.24.11.709

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


  6 in total

1.  Partial trisomy for the long arms of chromosome no. 5 due to insertion and further 'aneusomie de recombinaison'.

Authors:  P Jalbert; H Jalbert; B Sele; C Mouriquand; J Malka; J Boucharlat; H Pison
Journal:  J Med Genet       Date:  1975-12       Impact factor: 6.318

2.  Del(15)(q22q24) syndrome with Potter sequence.

Authors:  R D Clark
Journal:  Am J Med Genet       Date:  1984-12

3.  Interstitial deletion of the long arm of chromosome 15.

Authors:  J P Fryns; A de Muelenaere; H van den Berghe
Journal:  Ann Genet       Date:  1982

4.  Familial mental retardation in a family with an inherited chromosome rearrangement.

Authors:  A E Chudley; F Bauder; M Ray; P J McAlpine; S D Pena; J L Hamerton
Journal:  J Med Genet       Date:  1974-12       Impact factor: 6.318

5.  Segregation of an insertional chromosome rearrangement in 3 generations.

Authors:  K E Toomey; T Mohandas; R S Sparkes; M M Kaback; D L Rimoin
Journal:  J Med Genet       Date:  1978-10       Impact factor: 6.318

6.  Familial insertional translocation of a portion of 3q into 11q resulting in duplication and deletion of region 3q22.1 leads to q24 in different offspring.

Authors:  R A Williamson; M A Donlan; C R Dolan; H C Thuline; M T Harrison; J G Hall
Journal:  Am J Med Genet       Date:  1981
  6 in total
  5 in total

1.  A de novo interstitial deletion of 15(q21.2q22.1) in a moderately retarded adult male.

Authors:  F Martin; J Platt; E J Tawn; J Burn
Journal:  J Med Genet       Date:  1990-10       Impact factor: 6.318

2.  The clinical spectrum of complete FBN1 allele deletions.

Authors:  Yvonne Hilhorst-Hofstee; Ben C J Hamel; Joke B G M Verheij; Marry E B Rijlaarsdam; Grazia M S Mancini; Jan M Cobben; Cindy Giroth; Claudia A L Ruivenkamp; Kerstin B M Hansson; Janneke Timmermans; Henriette A Moll; Martijn H Breuning; Gerard Pals
Journal:  Eur J Hum Genet       Date:  2010-11-10       Impact factor: 4.246

3.  Quantitative assessment of craniofacial morphology in Johanson-Blizzard syndrome.

Authors:  Curtis K Deutsch; Tania Hreczko; Lewis B Holmes
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2013-03-06

4.  Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2).

Authors:  Seema R Lalani; Trilochan Sahoo; Merideth E Sanders; Sarika U Peters; Bassem A Bejjani
Journal:  BMC Med Genet       Date:  2006-02-10       Impact factor: 2.103

5.  Mapping Breakpoints of Complex Chromosome Rearrangements Involving a Partial Trisomy 15q23.1-q26.2 Revealed by Next Generation Sequencing and Conventional Techniques.

Authors:  Qiong Pan; Hao Hu; Liangrong Han; Xin Jing; Hailiang Liu; Chuanchun Yang; Fengting Zhang; Yue Hu; Hongni Yue; Ying Ning
Journal:  PLoS One       Date:  2016-05-24       Impact factor: 3.240
  5 in total

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