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 language | English |
|---|---|
| Pages (from-to) | 79-86 |
| Number of pages | 8 |
| Journal | Genetic Testing and Molecular Biomarkers |
| Volume | 13 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Feb 2009 |
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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 journal › Article
}
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 -