Literature DB >> 2658585

A review of phenotype-karyotype correlations in individuals with interstitial deletions of the long arm of chromosome 2.

J C Ramer1, R L Ladda, C A Frankel, A Beckford.   

Abstract

We report an infant with del(2)(q31q33). His phenotype is compared with those of the 7 children reported previously with the apparently identical deletion. Nine cases of deletions involving other segments of chromosome 2q are reviewed. Common manifestations of the 2 groups include small size at birth, growth and developmental retardation, cardiovascular malformation, microcephaly, and cleft palate.

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Year:  1989        PMID： 2658585     DOI： 10.1002/ajmg.1320320318

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


  8 in total

1.  Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1.

Authors:  A Theisen; J A Rosenfeld; K Shane; K L McBride; J F Atkin; C Gaba; J Hoo; T W Kurczynski; R E Schnur; L B Coffey; E H Zackai; L Schimmenti; N Friedman; M Zabukovec; S Ball; R Pagon; A Lucas; C K Brasington; J E Spence; S Sparks; V Banks; W Smith; T Friedberg; P R Wyatt; M Aust; R Tervo; A Crowley; D Skidmore; A N Lamb; B Ravnan; T Sahoo; R Schultz; B S Torchia; M Sgro; D Chitayat; L G Shaffer
Journal:  Mol Syndromol       Date:  2011-05-18

2.  A novel deletion in 2q24.1q24.2 in a girl with mental retardation and generalized hypotonia: a case report.

Authors:  Orazio Palumbo; Pietro Palumbo; Teresa Palladino; Raffaella Stallone; Leopoldo Zelante; Massimo Carella
Journal:  Mol Cytogenet       Date:  2012-01-03       Impact factor: 2.009

Review 3.  Absence makes the search grow longer.

Authors:  W B Dobyns
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

4.  Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster.

Authors:  M Del Campo; M C Jones; A N Veraksa; C J Curry; K L Jones; J T Mascarello; Z Ali-Kahn-Catts; T Drumheller; W McGinnis
Journal:  Am J Hum Genet       Date:  1999-07       Impact factor: 11.025

5.  Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster.

Authors:  David A Stevenson; Steven B Bleyl; Teresa Maxwell; Arthur R Brothman; Sarah T South
Journal:  Am J Med Genet A       Date:  2007-05-15       Impact factor: 2.802

6.  The use of array-CGH in a cohort of Greek children with developmental delay.

Authors:  Emmanouil Manolakos; Annalisa Vetro; Konstantinos Kefalas; Stamatia-Maria Rapti; Eirini Louizou; Antonios Garas; George Kitsos; Lefteris Vasileiadis; Panagiota Tsoplou; Makarios Eleftheriades; Panagiotis Peitsidis; Sandro Orru; Thomas Liehr; Michael B Petersen; Loretta Thomaidis
Journal:  Mol Cytogenet       Date:  2010-11-09       Impact factor: 2.009

7.  Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome.

Authors:  Jill A Rosenfeld; Blake C Ballif; Ann Lucas; Edward J Spence; Cynthia Powell; Arthur S Aylsworth; Beth A Torchia; Lisa G Shaffer
Journal:  PLoS One       Date:  2009-08-10       Impact factor: 3.240

8.  Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37.

Authors:  L C Wilson; K Leverton; M E Oude Luttikhuis; C A Oley; J Flint; J Wolstenholme; D P Duckett; M A Barrow; J V Leonard; A P Read
Journal:  Am J Hum Genet       Date:  1995-02       Impact factor: 11.025
  8 in total

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