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New Autosomal Syndromes: Trisomies 4p and 9p

Published online by Cambridge University Press:  01 August 2014

B. Dallapiccola ,
P. Mastroiacovo  and
G. Segni
B. Dallapiccola*
Affiliation:
Department of Medical Genetics, University of Rome, Italy
P. Mastroiacovo
Affiliation:
Department of Pediatrics, Catholic University; Program of Preventive Medicine (Perinatal Preventive Medicine — Subproject NPP/4), National Research Council, Rome, Italy
G. Segni
Affiliation:
Department of Pediatrics, Catholic University; Program of Preventive Medicine (Perinatal Preventive Medicine — Subproject NPP/4), National Research Council, Rome, Italy
*
Cattedra di Genetica Medica, Ospedale Spallanzani, Via Portuense 292, 00149 Rome, Italy

Abstract

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Six cases of trisomy 4p and three of trisomy 9p are reported. Growth retardation is an aspecific clinical sign, present in both of these “new autosomal” syndromes. Growth hormone determinations fit in the normal range. The attempts to subclassify these disorders correlating the severity of clinical manifestations and the size of the imbalanced chromosome segment, are considered unrealistic approaches.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 26 , Issue 3-4 , October 1977 , pp. 267 - 273
Copyright
Copyright © The International Society for Twin Studies 1977

References

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