13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients.

Lucia Ballarati, Elena Rossi, Maria Teresa Bonati, Stefania Gimelli, Paola Maraschio, Palma Finelli, Sabrina Giglio, Elisabetta Lapi, Maria Francesca Bedeschi, Silvana Guerneri, Giulia Arrigo, Maria Grazia Patricelli, Teresa Mattina, Oriana Guzzardi, Vanna Pecile, Adalgisa Police, Gioacchino Scarano, Lidia Larizza, Orsetta Zuffardi, Daniela Giardino

Research output: Contribution to journalArticle

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Abstract

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.

Original languageEnglish
JournalJournal of Medical Genetics
Volume44
Issue number1
Publication statusPublished - Jan 2007

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Nervous System Malformations
Karyotype
Central Nervous System
Phenotype
Neural Tube Defects
Dandy-Walker Syndrome
Eye Abnormalities
Comparative Genomic Hybridization
Fluorescence In Situ Hybridization
Cytogenetics
Intellectual Disability
Genes
Foot
Consensus
13q deletion syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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13q Deletion and central nervous system anomalies : further insights from karyotype-phenotype analyses of 14 patients. / Ballarati, Lucia; Rossi, Elena; Bonati, Maria Teresa; Gimelli, Stefania; Maraschio, Paola; Finelli, Palma; Giglio, Sabrina; Lapi, Elisabetta; Bedeschi, Maria Francesca; Guerneri, Silvana; Arrigo, Giulia; Patricelli, Maria Grazia; Mattina, Teresa; Guzzardi, Oriana; Pecile, Vanna; Police, Adalgisa; Scarano, Gioacchino; Larizza, Lidia; Zuffardi, Orsetta; Giardino, Daniela.

In: Journal of Medical Genetics, Vol. 44, No. 1, 01.2007.

Research output: Contribution to journalArticle

Ballarati, L, Rossi, E, Bonati, MT, Gimelli, S, Maraschio, P, Finelli, P, Giglio, S, Lapi, E, Bedeschi, MF, Guerneri, S, Arrigo, G, Patricelli, MG, Mattina, T, Guzzardi, O, Pecile, V, Police, A, Scarano, G, Larizza, L, Zuffardi, O & Giardino, D 2007, '13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients.', Journal of Medical Genetics, vol. 44, no. 1.
Ballarati, Lucia ; Rossi, Elena ; Bonati, Maria Teresa ; Gimelli, Stefania ; Maraschio, Paola ; Finelli, Palma ; Giglio, Sabrina ; Lapi, Elisabetta ; Bedeschi, Maria Francesca ; Guerneri, Silvana ; Arrigo, Giulia ; Patricelli, Maria Grazia ; Mattina, Teresa ; Guzzardi, Oriana ; Pecile, Vanna ; Police, Adalgisa ; Scarano, Gioacchino ; Larizza, Lidia ; Zuffardi, Orsetta ; Giardino, Daniela. / 13q Deletion and central nervous system anomalies : further insights from karyotype-phenotype analyses of 14 patients. In: Journal of Medical Genetics. 2007 ; Vol. 44, No. 1.
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abstract = "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.",
author = "Lucia Ballarati and Elena Rossi and Bonati, {Maria Teresa} and Stefania Gimelli and Paola Maraschio and Palma Finelli and Sabrina Giglio and Elisabetta Lapi and Bedeschi, {Maria Francesca} and Silvana Guerneri and Giulia Arrigo and Patricelli, {Maria Grazia} and Teresa Mattina and Oriana Guzzardi and Vanna Pecile and Adalgisa Police and Gioacchino Scarano and Lidia Larizza and Orsetta Zuffardi and Daniela Giardino",
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AU - Ballarati, Lucia

AU - Rossi, Elena

AU - Bonati, Maria Teresa

AU - Gimelli, Stefania

AU - Maraschio, Paola

AU - Finelli, Palma

AU - Giglio, Sabrina

AU - Lapi, Elisabetta

AU - Bedeschi, Maria Francesca

AU - Guerneri, Silvana

AU - Arrigo, Giulia

AU - Patricelli, Maria Grazia

AU - Mattina, Teresa

AU - Guzzardi, Oriana

AU - Pecile, Vanna

AU - Police, Adalgisa

AU - Scarano, Gioacchino

AU - Larizza, Lidia

AU - Zuffardi, Orsetta

AU - Giardino, Daniela

PY - 2007/1

Y1 - 2007/1

N2 - 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.

AB - 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.

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