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1q44-qter Trisomy:Clinical Report and Review of the Literature
- Source :
- Genetic Testing and Molecular Biomarkers. 13:79-86
- Publication Year :
- 2009
- Publisher :
- Mary Ann Liebert Inc, 2009.
-
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.
- Subjects :
- Male
Chromosomes, Artificial, Bacterial
Pediatrics
medicine.medical_specialty
Monosomy
Adolescent
Chromosomes, Human, Pair 22
Aneuploidy
Trisomy
Chromosomal translocation
Translocation, Genetic
Craniofacial Abnormalities
Clinical report
Intellectual Disability
medicine
International literature
Humans
Child
In Situ Hybridization, Fluorescence
Genetics (clinical)
business.industry
Karyotype
General Medicine
Cryptic translocation
medicine.disease
Chromosomes, Human, Pair 1
Karyotyping
Female
business
Subjects
Details
- ISSN :
- 19450257 and 19450265
- Volume :
- 13
- Database :
- OpenAIRE
- Journal :
- Genetic Testing and Molecular Biomarkers
- Accession number :
- edsair.doi.dedup.....93387e5b1d990a603721ea3face13e56