Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes

Rare association with pulmonary valve stenosis

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

Microdeletion 1q21.1 (del 1q21.1) and the reciprocal microduplication 1q21.1 (dup 1q21.1) are newly recognized genomic disorders, characterized by developmental delay, dysmorphic features and congenital malformations. Congenital heart defect (CHD) is a major feature of del 1q21.1, and has been occasionally reported in dup 1q21.1. We report here a family segregating del 1q21.1 in 3 members. Two of the affected family members had CHD, including the proband with syndromic atrial septal defect, pulmonary valve stenosis (PVS), and muscular ventricular septal defects, and the maternal uncle with non-syndromic PVS. This finding prompted investigation of the role of recurrent rearrangements of chromosome 1q21.1 in the pathogenesis of PVS. We gathered 38 patients with PVS (11 syndromic and 27 non-syndromic), and searched for genomic rearrangements of 1q21.1. A dup 1q21.1 was detected in a single sporadic non-syndromic patient. Review of the CHDs in published del 1q21.1 and dup 1q21.1 subjects showed a great heterogeneity in anatomic types. In conclusion, the present family illustrates recurrent CHD in del 1q21.1, expressing either as syndromic in one family member or as non-syndromic in the another one. The spectrum of CHDs associated with del 1q21.1 and dup 1q21.1 can occasionally include PVS.

Original languageEnglish
Pages (from-to)144-149
Number of pages6
JournalEuropean Journal of Medical Genetics
Volume56
Issue number3
DOIs
Publication statusPublished - Mar 2013

Fingerprint

Pulmonary Valve Stenosis
Congenital Heart Defects
Developmental Disabilities
Atrial Heart Septal Defects
Ventricular Heart Septal Defects
Chromosomes
Mothers
1.35-Mb Chromosome 1q21.1 Deletion Syndrome

Keywords

  • 1q21.1 Deletion
  • 1q21.1 Duplication
  • CGH array
  • Congenital heart defect

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

@article{869865d867ea4f10a8708c4057514527,
title = "Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: Rare association with pulmonary valve stenosis",
abstract = "Microdeletion 1q21.1 (del 1q21.1) and the reciprocal microduplication 1q21.1 (dup 1q21.1) are newly recognized genomic disorders, characterized by developmental delay, dysmorphic features and congenital malformations. Congenital heart defect (CHD) is a major feature of del 1q21.1, and has been occasionally reported in dup 1q21.1. We report here a family segregating del 1q21.1 in 3 members. Two of the affected family members had CHD, including the proband with syndromic atrial septal defect, pulmonary valve stenosis (PVS), and muscular ventricular septal defects, and the maternal uncle with non-syndromic PVS. This finding prompted investigation of the role of recurrent rearrangements of chromosome 1q21.1 in the pathogenesis of PVS. We gathered 38 patients with PVS (11 syndromic and 27 non-syndromic), and searched for genomic rearrangements of 1q21.1. A dup 1q21.1 was detected in a single sporadic non-syndromic patient. Review of the CHDs in published del 1q21.1 and dup 1q21.1 subjects showed a great heterogeneity in anatomic types. In conclusion, the present family illustrates recurrent CHD in del 1q21.1, expressing either as syndromic in one family member or as non-syndromic in the another one. The spectrum of CHDs associated with del 1q21.1 and dup 1q21.1 can occasionally include PVS.",
keywords = "1q21.1 Deletion, 1q21.1 Duplication, CGH array, Congenital heart defect",
author = "Digilio, {M. Cristina} and Laura Bernardini and Federica Consoli and Lepri, {Francesca R.} and Giuffrida, {M. Grazia} and Anwar Baban and Cecilia Surace and Rosangela Ferese and Adriano Angioni and Antonio Novelli and Bruno Marino and {De Luca}, Alessandro and Bruno Dallapiccola",
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T1 - Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes

T2 - Rare association with pulmonary valve stenosis

AU - Digilio, M. Cristina

AU - Bernardini, Laura

AU - Consoli, Federica

AU - Lepri, Francesca R.

AU - Giuffrida, M. Grazia

AU - Baban, Anwar

AU - Surace, Cecilia

AU - Ferese, Rosangela

AU - Angioni, Adriano

AU - Novelli, Antonio

AU - Marino, Bruno

AU - De Luca, Alessandro

AU - Dallapiccola, Bruno

PY - 2013/3

Y1 - 2013/3

N2 - Microdeletion 1q21.1 (del 1q21.1) and the reciprocal microduplication 1q21.1 (dup 1q21.1) are newly recognized genomic disorders, characterized by developmental delay, dysmorphic features and congenital malformations. Congenital heart defect (CHD) is a major feature of del 1q21.1, and has been occasionally reported in dup 1q21.1. We report here a family segregating del 1q21.1 in 3 members. Two of the affected family members had CHD, including the proband with syndromic atrial septal defect, pulmonary valve stenosis (PVS), and muscular ventricular septal defects, and the maternal uncle with non-syndromic PVS. This finding prompted investigation of the role of recurrent rearrangements of chromosome 1q21.1 in the pathogenesis of PVS. We gathered 38 patients with PVS (11 syndromic and 27 non-syndromic), and searched for genomic rearrangements of 1q21.1. A dup 1q21.1 was detected in a single sporadic non-syndromic patient. Review of the CHDs in published del 1q21.1 and dup 1q21.1 subjects showed a great heterogeneity in anatomic types. In conclusion, the present family illustrates recurrent CHD in del 1q21.1, expressing either as syndromic in one family member or as non-syndromic in the another one. The spectrum of CHDs associated with del 1q21.1 and dup 1q21.1 can occasionally include PVS.

AB - Microdeletion 1q21.1 (del 1q21.1) and the reciprocal microduplication 1q21.1 (dup 1q21.1) are newly recognized genomic disorders, characterized by developmental delay, dysmorphic features and congenital malformations. Congenital heart defect (CHD) is a major feature of del 1q21.1, and has been occasionally reported in dup 1q21.1. We report here a family segregating del 1q21.1 in 3 members. Two of the affected family members had CHD, including the proband with syndromic atrial septal defect, pulmonary valve stenosis (PVS), and muscular ventricular septal defects, and the maternal uncle with non-syndromic PVS. This finding prompted investigation of the role of recurrent rearrangements of chromosome 1q21.1 in the pathogenesis of PVS. We gathered 38 patients with PVS (11 syndromic and 27 non-syndromic), and searched for genomic rearrangements of 1q21.1. A dup 1q21.1 was detected in a single sporadic non-syndromic patient. Review of the CHDs in published del 1q21.1 and dup 1q21.1 subjects showed a great heterogeneity in anatomic types. In conclusion, the present family illustrates recurrent CHD in del 1q21.1, expressing either as syndromic in one family member or as non-syndromic in the another one. The spectrum of CHDs associated with del 1q21.1 and dup 1q21.1 can occasionally include PVS.

KW - 1q21.1 Deletion

KW - 1q21.1 Duplication

KW - CGH array

KW - Congenital heart defect

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U2 - 10.1016/j.ejmg.2012.12.004

DO - 10.1016/j.ejmg.2012.12.004

M3 - Article

VL - 56

SP - 144

EP - 149

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

SN - 1769-7212

IS - 3

ER -