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Six cases of 7p deletion: Clinical, cytogenetic, and molecular studies


Chotai, Kokila A; Brueton, Louise A; van Herwerden, Lyn; Garrett, Christine; Hinkel, Georg K; Schinzel, Albert; Mueller, Robert F; Speleman, Frank; Winter, Robin M (1994). Six cases of 7p deletion: Clinical, cytogenetic, and molecular studies. American Journal of Medical Genetics, 51(3):270-276.

Abstract

To date, 32 cases of partial 7p monosomy have been described, 14 of which have been associated with craniosynostosis (CRS). There is considerable variation in the size and location of the deleted segment. However, CRS appears to be consistently associated with either a deletion or partial deletion 7p21→7p22 or more rarely a deletion of 7p13→7p14.

Analysis of a panel of six 7p deletion cases (three with CRS) was undertaken using informative DNA probes, in order to characterize and define the extent of the deletions at the molecular level. There were five de novo deletions and one resulting from the unbalanced product of a paternal balanced insertion.

The putative proximal CRS locus at 7p13→7p14 does not appear to be allelic with Greig cephalopolysyndactyly syndrome. Three probe positions have been refined: pJ5.11 (D7S10) previously mapped to 7p14→pter does not appear to map proximal to p15; TM102L (D7S135) does not map distal to p22; CRI-P137 (D7S65) maps distal to 7p13.

Abstract

To date, 32 cases of partial 7p monosomy have been described, 14 of which have been associated with craniosynostosis (CRS). There is considerable variation in the size and location of the deleted segment. However, CRS appears to be consistently associated with either a deletion or partial deletion 7p21→7p22 or more rarely a deletion of 7p13→7p14.

Analysis of a panel of six 7p deletion cases (three with CRS) was undertaken using informative DNA probes, in order to characterize and define the extent of the deletions at the molecular level. There were five de novo deletions and one resulting from the unbalanced product of a paternal balanced insertion.

The putative proximal CRS locus at 7p13→7p14 does not appear to be allelic with Greig cephalopolysyndactyly syndrome. Three probe positions have been refined: pJ5.11 (D7S10) previously mapped to 7p14→pter does not appear to map proximal to p15; TM102L (D7S135) does not map distal to p22; CRI-P137 (D7S65) maps distal to 7p13.

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Additional indexing

Item Type:Journal Article, refereed, further contribution
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:610 Medicine & health
570 Life sciences; biology
Scopus Subject Areas:Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), Genetics, chromosome 7p deletion, craniosynostosis, Greig cephalopolysyndactyly, molecular studies
Language:English
Date:1 July 1994
Deposited On:25 Oct 2023 09:49
Last Modified:29 Apr 2024 01:40
Publisher:Wiley-Blackwell Publishing, Inc.
ISSN:0148-7299
OA Status:Closed
Publisher DOI:https://doi.org/10.1002/ajmg.1320510320
PubMed ID:7521123
Other Identification Number:Corpus ID: 45531863