Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome

Maria Cristina Roberti, Cecilia Surace, Maria Cristina Digilio, Gemma D'Elia, Pietro Sirleto, Rossella Capolino, Antonietta Lombardo, Anna Cristina Tomaiuolo, Stefano Petrocchi, Adriano Angioni

Research output: Contribution to journalArticle

Abstract

Complex chromosome rearrangements are constitutional structural rearrangements involving three or more chromosomes or having more than two breakpoints. These are rarely seen in the general population but their frequency should be much higher due to balanced states with no phenotypic presentation. These abnormalities preferentially occur de novo during spermatogenesis and are transmitted in families through oogenesis. Here, we report a de novo complex chromosome rearrangement that interests eight chromosomes in eighteen-year-old boy with an abnormal phenotype consisting in moderate developmental delay, cleft palate, and facial dysmorphisms. Standard G-banding revealed four apparently balanced traslocations involving the chromosomes 1;13, 3;19, 9;15 and 14;18 that appeared to be reciprocal. Array-based comparative genomic hybridization analysis showed no imbalances at all the breakpoints observed except for an interstitial microdeletion on chromosome 15. This deletion is 1.6 Mb in size and is located at chromosome band 15q14, distal to the Prader-Willi/Angelman region. Comparing the features of our patient with published reports of patients with 15q14 deletion this finding corresponds to the smallest genomic region of overlap. The deleted segment at 15q14 was investigated for gene content.

Original languageEnglish
Article number17
JournalOrphanet Journal of Rare Diseases
Volume6
Issue number1
DOIs
Publication statusPublished - 2011

Fingerprint

Chromosomes
Phenotype
Chromosomes, Human, Pair 15
Chromosomes, Human, Pair 13
Oogenesis
Comparative Genomic Hybridization
Chromosomes, Human, Pair 1
Cleft Palate
Spermatogenesis
Population
Genes

ASJC Scopus subject areas

  • Medicine(all)
  • Genetics(clinical)
  • Pharmacology (medical)

Cite this

Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome. / Roberti, Maria Cristina; Surace, Cecilia; Digilio, Maria Cristina; D'Elia, Gemma; Sirleto, Pietro; Capolino, Rossella; Lombardo, Antonietta; Tomaiuolo, Anna Cristina; Petrocchi, Stefano; Angioni, Adriano.

In: Orphanet Journal of Rare Diseases, Vol. 6, No. 1, 17, 2011.

Research output: Contribution to journalArticle

Roberti, Maria Cristina ; Surace, Cecilia ; Digilio, Maria Cristina ; D'Elia, Gemma ; Sirleto, Pietro ; Capolino, Rossella ; Lombardo, Antonietta ; Tomaiuolo, Anna Cristina ; Petrocchi, Stefano ; Angioni, Adriano. / Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome. In: Orphanet Journal of Rare Diseases. 2011 ; Vol. 6, No. 1.
@article{0e6fbb899eff4fd589710b60d4d84aaf,
title = "Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome",
abstract = "Complex chromosome rearrangements are constitutional structural rearrangements involving three or more chromosomes or having more than two breakpoints. These are rarely seen in the general population but their frequency should be much higher due to balanced states with no phenotypic presentation. These abnormalities preferentially occur de novo during spermatogenesis and are transmitted in families through oogenesis. Here, we report a de novo complex chromosome rearrangement that interests eight chromosomes in eighteen-year-old boy with an abnormal phenotype consisting in moderate developmental delay, cleft palate, and facial dysmorphisms. Standard G-banding revealed four apparently balanced traslocations involving the chromosomes 1;13, 3;19, 9;15 and 14;18 that appeared to be reciprocal. Array-based comparative genomic hybridization analysis showed no imbalances at all the breakpoints observed except for an interstitial microdeletion on chromosome 15. This deletion is 1.6 Mb in size and is located at chromosome band 15q14, distal to the Prader-Willi/Angelman region. Comparing the features of our patient with published reports of patients with 15q14 deletion this finding corresponds to the smallest genomic region of overlap. The deleted segment at 15q14 was investigated for gene content.",
author = "Roberti, {Maria Cristina} and Cecilia Surace and Digilio, {Maria Cristina} and Gemma D'Elia and Pietro Sirleto and Rossella Capolino and Antonietta Lombardo and Tomaiuolo, {Anna Cristina} and Stefano Petrocchi and Adriano Angioni",
year = "2011",
doi = "10.1186/1750-1172-6-17",
language = "English",
volume = "6",
journal = "Orphanet Journal of Rare Diseases",
issn = "1750-1172",
publisher = "BioMed Central Ltd.",
number = "1",

}

TY - JOUR

T1 - Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome

AU - Roberti, Maria Cristina

AU - Surace, Cecilia

AU - Digilio, Maria Cristina

AU - D'Elia, Gemma

AU - Sirleto, Pietro

AU - Capolino, Rossella

AU - Lombardo, Antonietta

AU - Tomaiuolo, Anna Cristina

AU - Petrocchi, Stefano

AU - Angioni, Adriano

PY - 2011

Y1 - 2011

N2 - Complex chromosome rearrangements are constitutional structural rearrangements involving three or more chromosomes or having more than two breakpoints. These are rarely seen in the general population but their frequency should be much higher due to balanced states with no phenotypic presentation. These abnormalities preferentially occur de novo during spermatogenesis and are transmitted in families through oogenesis. Here, we report a de novo complex chromosome rearrangement that interests eight chromosomes in eighteen-year-old boy with an abnormal phenotype consisting in moderate developmental delay, cleft palate, and facial dysmorphisms. Standard G-banding revealed four apparently balanced traslocations involving the chromosomes 1;13, 3;19, 9;15 and 14;18 that appeared to be reciprocal. Array-based comparative genomic hybridization analysis showed no imbalances at all the breakpoints observed except for an interstitial microdeletion on chromosome 15. This deletion is 1.6 Mb in size and is located at chromosome band 15q14, distal to the Prader-Willi/Angelman region. Comparing the features of our patient with published reports of patients with 15q14 deletion this finding corresponds to the smallest genomic region of overlap. The deleted segment at 15q14 was investigated for gene content.

AB - Complex chromosome rearrangements are constitutional structural rearrangements involving three or more chromosomes or having more than two breakpoints. These are rarely seen in the general population but their frequency should be much higher due to balanced states with no phenotypic presentation. These abnormalities preferentially occur de novo during spermatogenesis and are transmitted in families through oogenesis. Here, we report a de novo complex chromosome rearrangement that interests eight chromosomes in eighteen-year-old boy with an abnormal phenotype consisting in moderate developmental delay, cleft palate, and facial dysmorphisms. Standard G-banding revealed four apparently balanced traslocations involving the chromosomes 1;13, 3;19, 9;15 and 14;18 that appeared to be reciprocal. Array-based comparative genomic hybridization analysis showed no imbalances at all the breakpoints observed except for an interstitial microdeletion on chromosome 15. This deletion is 1.6 Mb in size and is located at chromosome band 15q14, distal to the Prader-Willi/Angelman region. Comparing the features of our patient with published reports of patients with 15q14 deletion this finding corresponds to the smallest genomic region of overlap. The deleted segment at 15q14 was investigated for gene content.

UR - http://www.scopus.com/inward/record.url?scp=79955112265&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=79955112265&partnerID=8YFLogxK

U2 - 10.1186/1750-1172-6-17

DO - 10.1186/1750-1172-6-17

M3 - Article

C2 - 21504564

AN - SCOPUS:79955112265

VL - 6

JO - Orphanet Journal of Rare Diseases

JF - Orphanet Journal of Rare Diseases

SN - 1750-1172

IS - 1

M1 - 17

ER -