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, and Winter, Robin M. (1994) Six cases of 7p deletion: clinical, cytogenetic, and molecular studies. American Journal of Medical Genetics, 51 (3). pp. 270-276.

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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.

Item ID: 28270
Item Type: Article (Refereed Research - C1)
Keywords: chromosome 7p deletion, craniosynostosis, Greig cephalopolysyndactyly, molecular studies
ISSN: 1552-4833
Date Deposited: 31 Jul 2013 04:06
FoR Codes: 11 MEDICAL AND HEALTH SCIENCES > 1103 Clinical Sciences > 110311 Medical Genetics (excl Cancer Genetics) @ 50%
11 MEDICAL AND HEALTH SCIENCES > 1114 Paediatrics and Reproductive Medicine > 111403 Paediatrics @ 50%
SEO Codes: 92 HEALTH > 9201 Clinical Health (Organs, Diseases and Abnormal Conditions) > 920110 Inherited Diseases (incl. Gene Therapy) @ 50%
92 HEALTH > 9201 Clinical Health (Organs, Diseases and Abnormal Conditions) > 920116 Skeletal System and Disorders (incl. Arthritis) @ 50%
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