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.

13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients / BALLARATI L; ROSSI E; BONATI MT; GIMELLI S; MARASCHIO P; FINELLI P; S. GIGLIO; 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. - In: JOURNAL OF MEDICAL GENETICS. - ISSN 0022-2593. - STAMPA. - 44:(2007), pp. 1-6.

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

GIGLIO, SABRINA RITA;
2007

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.
2007
44
1
6
BALLARATI L; ROSSI E; BONATI MT; GIMELLI S; MARASCHIO P; FINELLI P; S. GIGLIO; LAPI E; BEDESCHI MF; GUERNERI S; ARRIGO G; PATRICELLI MG; MATTINA T; GU...espandi
File in questo prodotto:
File Dimensione Formato  
2007-13q Deletion and central nervous system anomalies.pdf

Accesso chiuso

Tipologia: Altro
Licenza: Tutti i diritti riservati
Dimensione 571.02 kB
Formato Adobe PDF
571.02 kB Adobe PDF   Richiedi una copia

I documenti in FLORE sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/252631
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 206
  • ???jsp.display-item.citation.isi??? 99
social impact