Literature DB >> 9391893

Radial aplasia and chromosome 22q11 deletion.

M C Digilio1, A Giannotti, B Marino, A M Guadagni, M Orzalesi, B Dallapiccola.   

Abstract

We report on a neonate with deletion 22q11 (del22q11) presenting with facial dysmorphism, ocular coloboma, congenital heart defect, urogenital malformations, and unilateral radial aplasia. This malformation complex includes features frequently occurring in velocardiofacial syndrome as well as findings described in the CHARGE and VACTERL associations. To our knowledge, the present case is the first report of radial aplasia in del22q11. This observation further supports and extends the clinical variability of del22q11.

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Mesh：

Year:  1997        PMID： 9391893      PMCID： PMC1051127          DOI： 10.1136/jmg.34.11.942

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


  23 in total

1.  Renal and urological tract malformations caused by a 22q11 deletion.

Authors:  K Devriendt; A Swillen; J P Fryns; W Proesmans; M Gewillig
Journal:  J Med Genet       Date:  1996-04       Impact factor: 6.318

2.  Upper limb malformations in chromosome 22q11 deletions.

Authors:  S A Shalev; H Dar; H Barel; Z Borochowitz
Journal:  Am J Med Genet       Date:  1996-03-29

3.  Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature.

Authors:  N H Robin; J M Opitz; M Muenke
Journal:  Am J Med Genet       Date:  1996-03-29

4.  Juvenile rheumatoid arthritis in velo-cardio-facial syndrome: coincidence or unusual complication?

Authors:  S A Rasmussen; C A Williams; E M Ayoub; J W Sleasman; B A Gray; A Bent-Williams; H J Stalker; R T Zori
Journal:  Am J Med Genet       Date:  1996-09-06

5.  Cayler cardiofacial syndrome and del 22q11: part of the CATCH22 phenotype.

Authors:  A Giannotti; M C Digilio; B Marino; R Mingarelli; B Dallapiccola
Journal:  Am J Med Genet       Date:  1994-11-15

6.  Limb anomalies in DiGeorge and CHARGE syndromes.

Authors:  C Prasad; E J Quackenbush; D Whiteman; B Korf
Journal:  Am J Med Genet       Date:  1997-01-20

7.  Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2.

Authors:  R Matsuoka; A Takao; M Kimura; S Imamura; C Kondo; K Joh-o; K Ikeda; M Nishibatake; M Ando; K Momma
Journal:  Am J Med Genet       Date:  1994-11-15

8.  Cerebellar atrophy in a patient with velocardiofacial syndrome.

Authors:  D R Lynch; D M McDonald-McGinn; E H Zackai; B S Emanuel; D A Driscoll; L A Whitaker; K H Fischbeck
Journal:  J Med Genet       Date:  1995-07       Impact factor: 6.318

9.  Upper limb malformations in DiGeorge syndrome.

Authors:  V Cormier-Daire; L Iserin; D Théophile; D Sidi; C Vervel; J P Padovani; M Vekemans; A Munnich; S Lyonnet
Journal:  Am J Med Genet       Date:  1995-03-13

10.  UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome.

Authors:  A Pizzuti; G Novelli; A Ratti; F Amati; A Mari; G Calabrese; S Nicolis; V Silani; B Marino; G Scarlato; S Ottolenghi; B Dallapiccola
Journal:  Hum Mol Genet       Date:  1997-02       Impact factor: 6.150
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  7 in total

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Authors:  Gregory Costain; Candice K Silversides; Christian R Marshall; Mary Shago; Nicholas Costain; Anne S Bassett
Journal:  Int J Cardiol       Date:  2010-07-03       Impact factor: 4.164

2.  Thrombocytopenia-absent radius syndrome: a clinical genetic study.

Authors:  K L Greenhalgh; R T Howell; A Bottani; P J Ancliff; H G Brunner; C C Verschuuren-Bemelmans; E Vernon; K W Brown; R A Newbury-Ecob
Journal:  J Med Genet       Date:  2002-12       Impact factor: 6.318

3.  Microdeletion 22q11 and oesophageal atresia.

Authors:  M C Digilio; B Marino; P Bagolan; A Giannotti; B Dallapiccola
Journal:  J Med Genet       Date:  1999-02       Impact factor: 6.318

4.  More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated.

Authors:  N Corsten-Janssen; S C Saitta; L H Hoefsloot; D M McDonald-McGinn; D A Driscoll; R Derks; K A Dickinson; W S Kerstjens-Frederikse; B S Emanuel; E H Zackai; C M A van Ravenswaaij-Arts
Journal:  Mol Syndromol       Date:  2013-05-28

5.  Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice.

Authors:  Victoria Randall; Karen McCue; Catherine Roberts; Vanessa Kyriakopoulou; Sarah Beddow; Angela N Barrett; Francesca Vitelli; Katrina Prescott; Charles Shaw-Smith; Koen Devriendt; Erika Bosman; Georg Steffes; Karen P Steel; Subreena Simrick; M Albert Basson; Elizabeth Illingworth; Peter J Scambler
Journal:  J Clin Invest       Date:  2009-10-12       Impact factor: 14.808

6.  Ocular findings in children with a microdeletion in chromosome 22q11.2.

Authors:  Ingele Casteels; Patricia Casaer; Marc Gewillig; Ann Swillen; Koenraad Devriendt
Journal:  Eur J Pediatr       Date:  2007-08-18       Impact factor: 3.183

7.  Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-Cardio-Facial syndrome).

Authors:  Mc Digilio; B Marino; R Capolino; B Dallapiccola
Journal:  Images Paediatr Cardiol       Date:  2005-04
  7 in total

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