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Duplication of segment 1p21 following paternal insertional translocation, ins(6;1)(q25;p13.3p22.1)


Utkus, Algirdas; Sorokina, Irina; Kucinskas, Vaidutis; Röthlisberger, Benno; Balmer, Damina; Brecevic, Lukrecija; Schinzel, Albert (1999). Duplication of segment 1p21 following paternal insertional translocation, ins(6;1)(q25;p13.3p22.1). Journal of Medical Genetics, 36(1):73-76.

Abstract

A moderately mentally retarded 3 year old boy showed minor anomalies including a prominent forehead and flat occiput, exophthalmos, large and prominent ears, high arched palate, umbilical hernia, sacral dimple, and irregular position of the toes. Cardiac sonography disclosed a chorda running through the left ventricle. Cytogenetic investigation of the family showed a balanced insertional translocation of segment 1p13-->p22 into distal 6q in the father which had led, through unbalanced segregation, to duplication of 1p13.3-->p22.1 in the proband. Familial duplication of such a small interstitial segment of 1p has not been reported previously, and the paucity of abnormal physical findings in the proband compared to previous patients with a similar aberration is remarkable.

Abstract

A moderately mentally retarded 3 year old boy showed minor anomalies including a prominent forehead and flat occiput, exophthalmos, large and prominent ears, high arched palate, umbilical hernia, sacral dimple, and irregular position of the toes. Cardiac sonography disclosed a chorda running through the left ventricle. Cytogenetic investigation of the family showed a balanced insertional translocation of segment 1p13-->p22 into distal 6q in the father which had led, through unbalanced segregation, to duplication of 1p13.3-->p22.1 in the proband. Familial duplication of such a small interstitial segment of 1p has not been reported previously, and the paucity of abnormal physical findings in the proband compared to previous patients with a similar aberration is remarkable.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), chromosome duplication 1p, dual colour FISH, unbalanced insertional translocation
Language:English
Date:January 1999
Deposited On:22 Jun 2023 16:56
Last Modified:29 Apr 2024 01:38
Publisher:BMJ Publishing Group
ISSN:0022-2593
Additional Information:The following DOI is boken: 10.1136/jmg.36.1.73, Therefor the Official URL has been incorporated
OA Status:Closed
Free access at:Publisher DOI. An embargo period may apply.
Publisher DOI:https://doi.org/10.1136/jmg.36.1.73
Related URLs: (Library Catalogue)
PubMed ID:9950373
Other Identification Number:PMCID: PMC1762944