Interstitial deletion of chromosome 1 [del(1)(q25q32)] in an infant with prune belly sequence |
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| Authors: | Paula R Scarbrough Beatrice Files Andrew J Carroll R William Quinlan Sara C Finley Wayne H Finley |
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| Institution: | 1. Laboratory of Medical Genetics, University of Alabama at Birmingham, Birmingham, Alabama, U.S.A.;2. Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama, U.S.A.;3. Department of Obstetrics and Gynecology, University of Alabama at Birmingham, Birmingham, Alabama, U.S.A.;4. Laboratory of Medical Genetics, University of Alabama at Birmingham, Birmingham, Alabama, U.S.A.
Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama, U.S.A. |
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| Abstract: | Relatively few cases of deletion 1q have been reported. These cases have been divided into three groups according to assigned breakpoints. They include proximal interstitial, intermediate interstitial, and terminal deletions. We present a male infant with an interstitial deletion of 1q with breakpoints determined by GTG banding as q25 and q32. Comparison with similar case reports suggests common physical features which include microcephaly, growth retardation, developmental delay, clinodactyly, and genital anomalies in affected males. However, no characteristic phenotypic appearance is definable. The infant also presented with prune belly sequence (PBS) with Potter fades. Fetal ascites, as noted in this case on prenatal ultrasound, appears to be an early factor in the pathogenesis of PBS. Therefore, detection of fetal ascites should suggest the presence of the PBS association and the need for more extensive prenatal evaluation. |
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| Keywords: | Amniocentesis Fetal ascites 1q interstitial deletion Prenatal ultrasound Prune belly sequence |
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