1q44-qter trisomy: clinical report and review of the literature.

Elisabetta Lenzini, Lucia Ballarati, Paola Drigo, Marco Carrozzi, Daniela Gambel-Benussi, Daniela Giardino, Vincenzo Petix, Melissa Rosa Rizzotto, Vanna Pecile

Research output: Contribution to journalArticle

Abstract

Subtelomeric rearrangements are one of the main causes of multiple congenital anomalies and mental retardation, and they are detected in 5% of patients. We report on a 6.5-year-old boy with mental retardation, dysmorphic features, and behavioral problems, who revealed 1q44-qter trisomy and 22q13.3-qter monosomy due to a maternal cryptic translocation t(1;22). We compared the clinical and cytogenetic data of our patient with those of another case presenting a pure 22qter monosomy and with those of all 1qter trisomy cases reported in the international literature. To the best of our knowledge, the subterminal 1q trisomy found in the present case has been reported in only 12 patients to date (including five familial cases). This report aims to contribute to our understanding of 1q44-qter trisomy.

Original languageEnglish
Pages (from-to)79-86
Number of pages8
JournalGenetic Testing and Molecular Biomarkers
Volume13
Issue number1
DOIs
Publication statusPublished - Feb 2009

Fingerprint

Trisomy
Monosomy
Intellectual Disability
Cytogenetics
Mothers

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

1q44-qter trisomy : clinical report and review of the literature. / Lenzini, Elisabetta; Ballarati, Lucia; Drigo, Paola; Carrozzi, Marco; Gambel-Benussi, Daniela; Giardino, Daniela; Petix, Vincenzo; Rizzotto, Melissa Rosa; Pecile, Vanna.

In: Genetic Testing and Molecular Biomarkers, Vol. 13, No. 1, 02.2009, p. 79-86.

Research output: Contribution to journalArticle

Lenzini, Elisabetta ; Ballarati, Lucia ; Drigo, Paola ; Carrozzi, Marco ; Gambel-Benussi, Daniela ; Giardino, Daniela ; Petix, Vincenzo ; Rizzotto, Melissa Rosa ; Pecile, Vanna. / 1q44-qter trisomy : clinical report and review of the literature. In: Genetic Testing and Molecular Biomarkers. 2009 ; Vol. 13, No. 1. pp. 79-86.
@article{8ec978ac260b41a392b15e3602822568,
title = "1q44-qter trisomy: clinical report and review of the literature.",
abstract = "Subtelomeric rearrangements are one of the main causes of multiple congenital anomalies and mental retardation, and they are detected in 5{\%} of patients. We report on a 6.5-year-old boy with mental retardation, dysmorphic features, and behavioral problems, who revealed 1q44-qter trisomy and 22q13.3-qter monosomy due to a maternal cryptic translocation t(1;22). We compared the clinical and cytogenetic data of our patient with those of another case presenting a pure 22qter monosomy and with those of all 1qter trisomy cases reported in the international literature. To the best of our knowledge, the subterminal 1q trisomy found in the present case has been reported in only 12 patients to date (including five familial cases). This report aims to contribute to our understanding of 1q44-qter trisomy.",
author = "Elisabetta Lenzini and Lucia Ballarati and Paola Drigo and Marco Carrozzi and Daniela Gambel-Benussi and Daniela Giardino and Vincenzo Petix and Rizzotto, {Melissa Rosa} and Vanna Pecile",
year = "2009",
month = "2",
doi = "10.1089/gtmb.2008.0075",
language = "English",
volume = "13",
pages = "79--86",
journal = "Genetic Testing and Molecular Biomarkers",
issn = "1945-0265",
publisher = "Mary Ann Liebert Inc.",
number = "1",

}

TY - JOUR

T1 - 1q44-qter trisomy

T2 - clinical report and review of the literature.

AU - Lenzini, Elisabetta

AU - Ballarati, Lucia

AU - Drigo, Paola

AU - Carrozzi, Marco

AU - Gambel-Benussi, Daniela

AU - Giardino, Daniela

AU - Petix, Vincenzo

AU - Rizzotto, Melissa Rosa

AU - Pecile, Vanna

PY - 2009/2

Y1 - 2009/2

N2 - Subtelomeric rearrangements are one of the main causes of multiple congenital anomalies and mental retardation, and they are detected in 5% of patients. We report on a 6.5-year-old boy with mental retardation, dysmorphic features, and behavioral problems, who revealed 1q44-qter trisomy and 22q13.3-qter monosomy due to a maternal cryptic translocation t(1;22). We compared the clinical and cytogenetic data of our patient with those of another case presenting a pure 22qter monosomy and with those of all 1qter trisomy cases reported in the international literature. To the best of our knowledge, the subterminal 1q trisomy found in the present case has been reported in only 12 patients to date (including five familial cases). This report aims to contribute to our understanding of 1q44-qter trisomy.

AB - Subtelomeric rearrangements are one of the main causes of multiple congenital anomalies and mental retardation, and they are detected in 5% of patients. We report on a 6.5-year-old boy with mental retardation, dysmorphic features, and behavioral problems, who revealed 1q44-qter trisomy and 22q13.3-qter monosomy due to a maternal cryptic translocation t(1;22). We compared the clinical and cytogenetic data of our patient with those of another case presenting a pure 22qter monosomy and with those of all 1qter trisomy cases reported in the international literature. To the best of our knowledge, the subterminal 1q trisomy found in the present case has been reported in only 12 patients to date (including five familial cases). This report aims to contribute to our understanding of 1q44-qter trisomy.

UR - http://www.scopus.com/inward/record.url?scp=67049164293&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=67049164293&partnerID=8YFLogxK

U2 - 10.1089/gtmb.2008.0075

DO - 10.1089/gtmb.2008.0075

M3 - Article

C2 - 19309278

AN - SCOPUS:67049164293

VL - 13

SP - 79

EP - 86

JO - Genetic Testing and Molecular Biomarkers

JF - Genetic Testing and Molecular Biomarkers

SN - 1945-0265

IS - 1

ER -