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Mosaic terminal del(19)(q13.33:) in a girl with seizures and mental retardation


Mikselaar, Ruth V; Varb, Kadi; Süvari, Anneli; Schinzel, Albert (2001). Mosaic terminal del(19)(q13.33:) in a girl with seizures and mental retardation. Journal of Medical Genetics, 38(1):e2.

Abstract

EDITOR—Constitutional deletions of chromosome 19 are very rare.1 At present, only one case of 19p deletion2 and six cases of a de novo proximal deletion of 19q have been reported. The 19q deletions include an interstitial deletion del(19)(q12q13.1) and a submicroscopic de novo deletion of 19q13 resulting from t(X;19)(p21;q13) in a patient with Diamond-Blackfan anaemia and congenital anomalies.3 ,4 The analysis of familial and sporadic cases of Diamond-Blackfan anaemia showed four additional patients with de novo microdeletions that overlap the 19q13.2 region.5-7 No cases with a deletion of the terminal segment of 19q have been described so far. We report the first case of a constitutional terminal mosaic deletion of 19q with a breakpoint at band 19q13.33.

Abstract

EDITOR—Constitutional deletions of chromosome 19 are very rare.1 At present, only one case of 19p deletion2 and six cases of a de novo proximal deletion of 19q have been reported. The 19q deletions include an interstitial deletion del(19)(q12q13.1) and a submicroscopic de novo deletion of 19q13 resulting from t(X;19)(p21;q13) in a patient with Diamond-Blackfan anaemia and congenital anomalies.3 ,4 The analysis of familial and sporadic cases of Diamond-Blackfan anaemia showed four additional patients with de novo microdeletions that overlap the 19q13.2 region.5-7 No cases with a deletion of the terminal segment of 19q have been described so far. We report the first case of a constitutional terminal mosaic deletion of 19q with a breakpoint at band 19q13.33.

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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), Genetics
Language:English
Date:1 January 2001
Deposited On:28 Jun 2023 07:08
Last Modified:29 Mar 2024 04:43
Publisher:BMJ Publishing Group
ISSN:0022-2593
OA Status:Closed
Publisher DOI:https://doi.org/10.1136/jmg.38.1.e2
Related URLs:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734720/ (Library Catalogue)
PubMed ID:11134241
Other Identification Number:PMCID: PMC1734720