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Physical mapping of the holoprosencephaly critical region on chromosome 7q36


Gurrieri, Fiorella; Trask, Barbara J; van den Engh, Ger; Krauss, Celeste M; Schinzel, Albert; Pettenati, Mark J; Schindler, Detlef; Dietz-Band, Jeanne; Vergnaud, Gilles; Scherer, Stephen W; Tsui, Lap-Chee; Muenke, Maximilian (1993). Physical mapping of the holoprosencephaly critical region on chromosome 7q36. Nature Genetics, 3(3):247-251.

Abstract

Holoprosencephaly (HPE) is a developmental field defect involving the brain and face. Cytogenetic deletions in patients with HPE have localized one of the HPE genes to chromosomal region 7q36. We have characterized the 7q deletions in thirteen HPE patients. The result is the construction of a high resolution physical map of 7q32-qter. As a first step towards cloning an HPE gene crucial for normal brain development, we have defined the HPE minimal critical region in 7q36 between D7S292 and D7S392.

Abstract

Holoprosencephaly (HPE) is a developmental field defect involving the brain and face. Cytogenetic deletions in patients with HPE have localized one of the HPE genes to chromosomal region 7q36. We have characterized the 7q deletions in thirteen HPE patients. The result is the construction of a high resolution physical map of 7q32-qter. As a first step towards cloning an HPE gene crucial for normal brain development, we have defined the HPE minimal critical region in 7q36 between D7S292 and D7S392.

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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
Uncontrolled Keywords:Genetics, Genetics (clinical), Adult, Cell Line, Child, Chromosome Mapping, Female, Fetus, Gene Deletion, Holoprosencephaly / genetics, Holoprosencephaly / pathology, Humans, Infant, Newborn, Male, Pedigree, Polymerase Chain Reaction
Language:English
Date:1 March 1993
Deposited On:27 Sep 2023 17:20
Last Modified:29 Apr 2024 01:40
Publisher:Nature Publishing Group
ISSN:1061-4036
OA Status:Closed
Publisher DOI:https://doi.org/10.1038/ng0393-247
PubMed ID:8485580
Other Identification Number:Corpus ID: 9426612