Robinow syndrome in two siblings from consanguineous parents |
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| Authors: | D. F. Schorderet S. Dahoun I. Defrance D. Nusslé M. A. Morris |
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| Affiliation: | (1) Department of Microbiology and Genetics, University of Geneva and Hôpital cantonal Universitaire, 9, ave de Champel, CH-1211 Geneva, Switzerland;(2) Department of Paediatrics, University of Geneva and Hôpital cantonal Universitaire, 9, ave de Champel, CH-1211 Geneva, Switzerland;(3) Department of Paediatric Radiology, University of Geneva and Hôpital cantonal Universitaire, 9, ave de Champel, CH-1211 Geneva, Switzerland |
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| Abstract: | ![]()
A Kurdish family had two children affected with Robinow syndrome. The daughter had short stature, macrocephaly, hypertelorism, hepatosplenomegaly, short forearms and marked vertebral anomalies. Her brother had hypertelorism, hypertrophied alveolar ridges, hepatosplenomegaly, short forearms, rib anomaly and ambiguous genitalia. The karyotype of the affected male sibling showed mosaicism for 45X, 46,X,dicY(q11.22), 47,X,dicY(q11.22),dicY(q11.22). |
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| Keywords: | Robinow syndrome Autosomal recessive occurrence Chromosomal abnormalities Y chromosome |
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