title: Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event.
abstract: BACKGROUND
  Partial monosomies of chromosome 16q are rare and overlapping effects from complex chromosomal rearrangements often hamper genotype-phenotype correlations for such imbalances. Here, we report the clinical features of an isolated partial monosomy 16q21q22.1 in a boy with a complex de novo rearrangement possibly resulting from a chromothripsis event.
  
  
  RESULTS
  The patient presented with low birth weight, microcephaly, developmental delay, facial dysmorphisms, short stature, dysmorphic ears and cardiopathy. Standard and molecular cytogenetics showed a complex rearrangement characterised by a pericentromeric inversion in one of chromosomes 12 and an inverted insertional translocation of the 12q14q21.1 region, from the rearranged chromosome 12, into the q21q22.1 tract of a chromosome 16. Array-CGH analysis unravelled a partial 16q21q22.1 monosomy, localised in the rearranged chromosome 16.
  
  
  CONCLUSIONS
  The comparison of the present case to other 16q21q22 monosomies contributed to narrow down the critical region for cardiac anomalies in the 16q22 deletion syndrome. However, more cases, well characterised both for phenotypic signs and genomic details, are needed to further restrict candidate regions for phenotypic signs in 16q deletions. The present case also provided evidence that a very complex rearrangement, possibly caused by a chromothripsis event, might be hidden behind a classical phenotype that is specific for a syndrome.
authors.affiliation: DMMBM, Universita' di Napoli Federico II, Naples, Italy.
authors.forename: Rita
authors.initials: R
authors.lastname: Genesio
authors.affiliation: DMMBM, Universita' di Napoli Federico II, Naples, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Ronga
authors.affiliation: UOSC Genetica Medica, AORN A. Cardarelli, Naples, Italy.
authors.forename: Pia
authors.initials: P
authors.lastname: Castelluccio
authors.affiliation: UOSC Genetica Medica, AORN A. Cardarelli, Naples, Italy.
authors.forename: Gennaro
authors.initials: G
authors.lastname: Fioretti
authors.affiliation: DMMBM, Universita' di Napoli Federico II, Naples, Italy.
authors.forename: Angela
authors.initials: A
authors.lastname: Mormile
authors.affiliation: DMMBM, Universita' di Napoli Federico II, Naples, Italy.
authors.forename: Graziella
authors.initials: G
authors.lastname: Leone
authors.affiliation: DMMBM, Universita' di Napoli Federico II, Naples, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Conti
authors.affiliation: UOSC Genetica Medica, AORN A. Cardarelli, Naples, Italy.
authors.forename: Maria Luigia
authors.initials: ML
authors.lastname: Cavaliere
authors.affiliation: DMMBM, Universita' di Napoli Federico II, Naples, Italy.
authors.forename: Lucio
authors.initials: L
authors.lastname: Nitsch
references.citation: Am J Med Genet. 1992 Jun 1;43(3):561-4
references.pmid: 1605249
references.citation: Eur J Paediatr Neurol. 2013 May;17(3):316-20
references.pmid: 23352671
references.citation: Cell Rep. 2012 Jun 28;1(6):648-55
references.pmid: 22813740
references.citation: J Med Genet. 1993 Oct;30(10):828-32
references.pmid: 8230159
references.citation: PLoS Genet. 2009 Jan;5(1):e1000327
references.pmid: 19180184
references.citation: Pathogenetics. 2008 Nov 03;1(1):4
references.pmid: 19014668
references.citation: Nat Genet. 1995 Aug;10(4):394-9
references.pmid: 7670488
references.citation: Gene. 2012 May 1;498(2):328-31
references.pmid: 22326525
references.citation: Cell. 2011 Sep 16;146(6):889-903
references.pmid: 21925314
references.citation: Am J Med Genet A. 2008 Jun 15;146A(12):1575-80
references.pmid: 18470894
references.citation: Am J Med Genet A. 2011 Oct;155A(10):2597-600
references.pmid: 21910236
references.citation: J Med Genet. 2011 Jan;48(1):48-54
references.pmid: 20972252
references.citation: Am J Hum Genet. 2009 Apr;84(4):524-33
references.pmid: 19344873
references.citation: J Med Genet. 2000 May;37(5):389-92
references.pmid: 10905896
references.citation: J Med Genet. 2005 Aug;42(8):609-29
references.pmid: 16061560
references.citation: Congenit Anom (Kyoto). 2004 Dec;44(4):225-9
references.pmid: 15566413
references.citation: Clin Genet. 2009 Dec;76(6):573-6
references.pmid: 19807741