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Possible new variant of Nijmegen breakage syndrome

โœ Scribed by Der Kaloustian, Vazken M.; Kleijer, Wim; Booth, Ann; Auerbach, Arleen D.; Mazer, Bruce; Elliott, Alison M.; Abish, Sharon; Usher, Robert; Watters, Gordon; Vekemans, Michel; Eydoux, Patrice

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
611 KB
Volume
65
Category
Article
ISSN
0148-7299

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โœฆ Synopsis

W e report on a child with microcephaly, small facial and body size, and immune deficiency. The phenotype is consistent with Nijmegen breakage syndrome (NBS), with additional clinical manifestations and laboratory findings not reported heretofore. Most investigations, including the results of radiation-resistant DNA synthesis, concurred with the diagnosis of NBS. Cytogenetic analysis documented abnormalities in virtually all cells examined. Along with the high frequency of breaks and rearrangements of chromosomes 7 and 14, we found breakage and monosomies involving numerous other chromosomes. Because of some variation in the clinical presentation and some unusual cytogenetic findings, we suggest that our patient may represent a new variant of Nijmegen breakage syndrome.

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