Two cases of interstitial deletion of the long arm of chromosome 1: del(1)(q21 → q25) and del(1)(q41 → q43) |
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Authors: | F. A. Beemer J. M. Klep-de Pater G. J. Sepers B. Janssen |
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Affiliation: | Clinical Genetics Center, Department of Pediatrics, Utrecht, The Netherlands;University Children's Hospital "Het Wilhelmina Kinderziekenhuis";Diakonessen Huis, Department of Pediatrics, Utrecht, The Netherlands |
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Abstract: | Two unrelated children, one with a proximal interstitial deletion 1 (1(pter----q21: :q25----qter] and the other one with a distal interstitial deletion 1 (1(pter----q41: :q43----qter] are presented. The clinical features of the patient with a proximal deletion (q21-q25) correspond with those of eight earlier reported cases with a deletion 1q21/22/23----q25. The second patient with the distal interstitial deletion (q41-q43) is the first case published as far as we know. The clinical characteristics of the latter patient are compared with those of six cases with a terminal deletion 1q with at least one common band missing (1q42). |
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Keywords: | De novo interstitial deletion monosomy 1q multiple congenital anomalies |
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