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Partial trisomy of the long arm of chromosome 1: prenatal diagnosis, clinical evaluation and cytogenetic findings: case report and review of the literature

Cambosu, Francesca and Capobianco, Giampiero and Fogu, Giuseppa and Bandiera, Pasquale and Pirino, Alessio and Moro, Maria Antonietta Serafina and Sanna, Raimonda and Soro, Giovanna and Dessole, Margherita and Montella, Andrea Costantino Mario (2013) Partial trisomy of the long arm of chromosome 1: prenatal diagnosis, clinical evaluation and cytogenetic findings: case report and review of the literature. Journal of obstetrics and gynaecology research, Vol. 39 (2), p. 592-597. eISSN 1447-0756. Article.

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DOI: 10.1111/j.1447-0756.2012.01986.x

Abstract

Partial trisomy of the long arm of chromosome 1 is a relatively rare cytogenetic anomaly. Its phenotype has still not been completely defined, because of the cytogenetic heterogeneity of the cases so far described. We report a prenatal case of partial 1q trisomy associated with partial monosomy 4q, secondary to balanced maternal translocation t(1;4). The trisomic segment extended from 1q31.1 to qter and the monosomy 4q was from 4q35.2 to qter. The phenotypic anomalies found by post-mortem and autopsy examinations were compared with those of similar cases reported in the literature. We performed standard cytogenetics and fluorescence in situ hybridization. Cerebral ventriculomegaly, present in our case, seemed to be a constant feature in partial 1q trisomies, so this cerebral malformation could be considered as the main echographic marker for this chromosomal imbalance and trisomy 1q should be added to the list of chromosomal abnormalities associated with ventriculomegaly.

Item Type:Article
ID Code:8075
Status:Published
Refereed:Yes
Uncontrolled Keywords:1q trisomy, fluorescence in situ hybridization, prenatal diagnosis, ventriculomegaly
Subjects:Area 06 - Scienze mediche > MED/40 Ginecologia e ostetricia
Area 05 - Scienze biologiche > BIO/18 Genetica
Area 05 - Scienze biologiche > BIO/16 Anatomia umana
Divisions:001 Università di Sassari > 01-a Nuovi Dipartimenti dal 2012 > Scienze Chirurgiche, Microchirurgiche e Mediche
001 Università di Sassari > 01-a Nuovi Dipartimenti dal 2012 > Scienze Biomediche
Publisher:Blackwell / Wiley
eISSN:1447-0756
Copyright Holders:© 2012 The Authors, Journal of Obstetrics and Gynaecology Research © 2012 Japan Society of Obstetrics and Gynecology
Deposited On:22 Oct 2012 16:22

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