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Fragile X phenotype in a patient with a large de novo deletion in Xq27-q28

✍ Scribed by Albright, Susan G. ;Lachiewicz, Ave M. ;Tarleton, Jack C. ;Rao, Kathleen W. ;Schwartz, Charles E. ;Richie, Renee ;Tennison, Michael B. ;Aylsworth, Arthur S.

Publisher: John Wiley and Sons
Year: 1994
Tongue: English
Weight: 426 KB
Volume: 51
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320510403

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

A 2‐year‐old boy with manifestations of the fragile X syndrome was found to have a cytogenetically visible deletion of Xq27‐q28 including deletion of FMR‐1. Molecular analysis of the patient was recently described in Tarleton et al. [1993: Hum Mol Genet 2(11): 1973–1974] and the deletion was estimated to be at least 3 megabases (Mb). His mother had 2 FMR‐1 alleles with normal numbers of CGG repeats, 20 and 32, respectively. Thus, the deletion occurred as a de novo event. The patient does not appear to have clinical or laboratory findings other than those typically associated with fragile X syndrome, suggesting that the deletion does not remove other contiguous genes. This report describes the phenotype of the patient, including psychological studies. © 1994 Wiley‐Liss, Inc.

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