𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Molecular characterization of a ring chromosome 16 from a patient with bilateral cataracts

✍ Scribed by He, Weigong ;Tuck-Muller, Cathy M. ;Martínez, José E. ;Li, Shibo ;Rowley, Ewellonda R. ;Wertelecki, Wladimir

Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
246 KB
Volume
107
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

A four‐month‐old white female, who was referred to us for genetic evaluation because of severe developmental delay, dysmorphic features, and bilateral cataracts, was found by routine cytogenetic analysis to have ring chromosome 16 in almost all cells analyzed. Ring chromosome 16 was confirmed and further delineated by fluorescence in situ hybridization (FISH). Breakpoints between loci D16S521 and KG8 on the short arm and D16S3121 and D16S303 on the long arm of chromosome 16 were determined by polymerase chain reaction (PCR) analysis. The deleted chromosome was of maternal origin. To our knowledge, this is the first case of ring chromosome 16 associated with bilateral cataracts. Comparison of previously reported cases with deletion of chromosome 16 and our case suggests the presence of cataract locus within 1 Mb of the terminus of 16q. © 2001 Wiley‐Liss, Inc.

📜 SIMILAR VOLUMES

Cytogenetic and clinical findings in a p
Cytogenetic and clinical findings in a patient with a deletion of 16q23.1: First report of bilateral cataracts and a 16q deletion
✍ Monaghan, Kristin G.; van Dyke, Daniel L.; Wiktor, Anne; Feldman, Gerald L. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 121 KB 👁 1 views

The most commonly reported manifestations of 16q deletions are severe growth and developmental disorders and anomalies of the craniofacial, visceral, and musculoskeletal systems. We reviewed the findings of patients reported with 16q-syndrome and compared them to our patient, a 4 1 ⁄2-yearold boy wi

Molecular and cytogenetic characterizati
Molecular and cytogenetic characterization of a non-mosaic isodicentric Y chromosome in a patient with Klinefelter syndrome
✍ Wolfram Heinritz; Dieter Kotzot; Stefan Heinze; Annegret Kujat; Werner J. Kleema 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 169 KB 👁 2 views

## Abstract We report on an adult male with Klinefelter phenotype and an isodicentric Y chromosome (47,XX,+idic(Y)(q12)), a combination which has to the best of our knowledge not been reported before. The patient was hospitalized in forensic psychiatry because of repeated delinquency, aggressive, a