Mewing cry in a child with the partial deletion of the short arm of chromosome No. 4 |
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Authors: | I. Šubrt B. Blehová E. Sedláčková |
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Affiliation: | (1) Department of Pediatrics, Faculty of Medical Hygiene, Charles University, Prague;(2) Department on Phoniatrics, Faculty of General Medicine, Charles University, Prague;(3) Laboratory of Cytogenetics Department of Pediatrics, Faculty Hospital, Vinohradská 159, Prague 10, (Czechoslovakia) |
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Abstract: | Summary A case is presented of partial deletion of the short arm of the chromosome No. 4, but with a mewing cry, typical of the 5p — deletion syndrome. The clinical examination revealed similar features to those described in other cases of 4p — deletion, namely low birth weight, hypertelorism, facial asymmetry, failure to thrive, mental retardation, beak-shaped nose, low set ears, broad nasal bridge, skeletal anomalies and hypotony. The mewing character of the voice was confirmed by analysis of the voice spectrum. The deleted chromosome was identified by the measurement technique. |
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