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13q Deletion and central nervous system anomalies: further insights from karyotype–phenotype analyses of 14 patients
  1. Lucia Ballarati1,*,
  2. Elena Rossi2,*,
  3. Maria Teresa Bonati1,
  4. Stefania Gimelli2,
  5. Paola Maraschio2,
  6. Palma Finelli3,
  7. Sabrina Giglio4,
  8. Elisabetta Lapi4,
  9. Maria Francesca Bedeschi5,
  10. Silvana Guerneri5,
  11. Giulia Arrigo6,
  12. Maria Grazia Patricelli6,
  13. Teresa Mattina7,
  14. Oriana Guzzardi7,
  15. Vanna Pecile8,
  16. Adalgisa Police9,
  17. Gioacchino Scarano10,
  18. Lidia Larizza11,
  19. Orsetta Zuffardi2,
  20. Daniela Giardino1
  1. 1Laboratory Citogenetica Medica, Istituto Auxologico Italiano, Milan, Italy
  2. 2Genetica Medica, Università di Pavia, Pavia, Italy
  3. 3Dip Biologia e Genetica Scienze Mediche, Università di Milano, Milan, Italy
  4. 4Ospedale Meyer, Florence, Italy
  5. 5Unità Genetica Medica e Lab Citogenetica, Fondazione Osp Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy
  6. 6Servizio di Genetica, Ospedale San Raffaele, Milan, Italy
  7. 7Genetica Medica, Università di Catania, Catania, Italy
  8. 8Servizio Genetica Medica, Ospedale Burlo Garofalo, Trieste, Italy
  9. 9Lab Genetica Medica, Ospedale Moscati, Avellino, Italy
  10. 10UOC di Genetica Medica, Osp G Rummo, Benevento, Italy
  11. 11Genetica Medica, Scuola di Medicina, Osp S Paolo, Università di Milano, Milan, Italy
  1. Correspondence to:
 E Rossi
 Biologia Generale e Genetica Medica, Università di Pavia, Via Forlanini 14, 27100 Pavia, Italy; rossie{at}


Background: Chromosome 13q deletion is associated with varying phenotypes, which seem to depend on the location of the deleted segment. Although various attempts have been made to link the 13q deletion intervals to distinct phenotypes, there is still no acknowledged consensus correlation between the monosomy of distinct 13q regions and specific clinical features.

Methods: 14 Italian patients carrying partial de novo 13q deletions were studied. Molecular–cytogenetic characterisation was carried out by means of array-comparative genomic hybridisation (array-CGH) or fluorescent in situ hybridisation (FISH).

Results: Our 14 patients showed mental retardation ranging from profound–severe to moderate–mild: eight had central nervous system (CNS) anomalies, including neural tube defects (NTDs), six had eye abnormalities, nine had facial dysmorphisms and 10 had hand or feet anomalies. The size of the deleted regions varied from 4.2 to 75.7 Mb.

Conclusion: This study is the first systematic molecular characterisation of de novo 13q deletions, and offers a karyotype–phenotype correlation based on detailed clinical studies and molecular determinations of the deleted regions. Analyses confirm that patients lacking the 13q32 band are the most seriously affected, and critical intervals have been preliminarily assigned for CNS malformations. Dose-sensitive genes proximal to q33.2 may be involved in NTDs. The minimal deletion interval associated with the Dandy–Walker malformation (DWM) was narrowed to the 13q32.2–33.2 region, in which the ZIC2 and ZIC5 genes proposed as underlying various CNS malformations are mapped.

  • array-CGH, array comparative genomic hybridisation
  • BAC, —
  • CNS, central nervous system
  • DWM, Dandy–Walker malformation
  • FISH, fluorescent in situ hybridisation
  • HPE, holoprosencephaly
  • NTDs, neural tube defects
  • ZIC2, —

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  • * These authors contributed equally to this work.

  • Competing interests: None declared.