Interstitial deletions of the long arm of chromosome 14 are infrequent. Molecular and clinical studies on patients with deletions involving 14q11.2-q21 have recently been reported.1 Most of these deletion patients share common clinical signs, such as midline defects of the central nervous system, feeding problems, growth abnormalities, hypotonia, developmental delay, mental retardation, and craniofacial anomalies.1 Here we present the phenotypic, cytogenetic, and molecular genetic findings of a 2½12 year old boy with a 14q12-q13.1 deletion. To our knowledge this is the second case described of a patient with a deletion of less than 3.5 Mb within chromosome bands 14q12-q13.1. Using the genomic sequence between markers D14S1060 and D14S286, we have constructed a transcription map of the genomic interval deleted in our patient. Our proband (fig 1) is the 40 week product of a second, uncomplicated pregnancy and delivery. Maternal age was 27 years. Birth weight was 4435 g (>90th centile), length 55 cm (>90th centile), and head circumference 34 cm (10th-25th centile). Apgar score was 7/9/10. The neonatal period was complicated by pneumonia, treated with parenteral antibiotic therapy over 10 days. Besides relative microcephaly, hypertelorism, epicanthic folds, a long and flat philtrum, hypodontia, laterally placed, hypoplastic mamillae, second degree hypospadias, bifid scrotum, and bilateral cryptorchidism were noticed. Cranial ultrasound was normal; ultrasound of the kidneys and pelvic region showed bilateral second degree hydronephrosis, and both testes were visible in the inguinal region. Screening for connatal infections (toxoplasmosis, rubella, cytomegalovirus, and parvovirus B19) was negative. Psychomotor development was severely impaired from early infancy. Lack of vision was evident at 3 months and, apart from head control, no gain of motor milestones or social contact was achieved until the age of 29 months. Muscle tone of the trunk was decreased while it was increased and dystonic in the upper and …

Review Articles| August 07 2000 Localization of the human anterior gradient-2 gene (AGR2) to chromosome band 7p21.3 by radiation hybrid mapping and fluorescencein situ hybridisation Subject Area: Genetics E. Petek; E. Petek Institute of Medical Biology and Human Genetics, University of Graz (Austria) Search for other works by this author on: This Site PubMed Google Scholar C. Windpassinger; C. Windpassinger Institute of Medical Biology and Human Genetics, University of Graz (Austria) Search for other works by this author on: This Site PubMed Google Scholar H. Egger; H. Egger Institute of Medical Biology and Human Genetics, University of Graz (Austria) Search for other works by this author on: This Site PubMed Google Scholar P.M. Kroisel; P.M. Kroisel Institute of Medical Biology and Human Genetics, University of Graz (Austria) Search for other works by this author on: This Site PubMed Google Scholar K. Wagner K. Wagner Institute of Medical Biology and Human Genetics, University of Graz (Austria) Search for other works by this author on: This Site PubMed Google Scholar Cytogenetics and Cell Genetics (2000) 89 (3-4): 141–142. https://doi.org/10.1159/000015594 Article history Published Online: August 07 2000 Content Tools Views Icon Views Article contents Figures & tables Video Audio Supplementary Data Peer Review Share Icon Share Facebook Twitter LinkedIn Email Tools Icon Tools Get Permissions Cite Icon Cite Search Site Citation E. Petek, C. Windpassinger, H. Egger, P.M. Kroisel, K. Wagner; Localization of the human anterior gradient-2 gene (AGR2) to chromosome band 7p21.3 by radiation hybrid mapping and fluorescencein situ hybridisation. Cytogenetics and Cell Genetics 1 July 2000; 89 (3-4): 141–142. https://doi.org/10.1159/000015594 Download citation file: Ris (Zotero) Reference Manager EasyBib Bookends Mendeley Papers EndNote RefWorks BibTex toolbar search Search Dropdown Menu toolbar search search input Search input auto suggest filter your search All ContentAll JournalsCytogenetic and Genome Research Search Advanced Search This content is only available via PDF. 2000Copyright / Drug Dosage / DisclaimerCopyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Article PDF first page preview Close Modal You do not currently have access to this content.