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Delineation of Syndromes Due to Partial 6q Imbalances. Trisomy 6q21→qter and Monosomy 6q221→qter in Two Unrelated Patients

Published online by Cambridge University Press:  01 August 2014

B. Dallapiccola ,
Franca Dagna Bricarelli ,
A. Rasore Quartino ,
Maria Cristina Mazzilli ,
Rosanna Chisci  and
E. Gandini
B. Dallapiccola*
Affiliation:
Department of Medical Genetics, University of Rome, Italy
Franca Dagna Bricarelli
Affiliation:
Department of Human Genetics, University of Genoa; and Pediatric Division, Galliera Hospital, Genoa, Italy
A. Rasore Quartino
Affiliation:
Department of Human Genetics, University of Genoa; and Pediatric Division, Galliera Hospital, Genoa, Italy
Maria Cristina Mazzilli
Affiliation:
Department of Medical Genetics, University of Rome, Italy
Rosanna Chisci
Affiliation:
Department of Human Genetics, University of Genoa; and Pediatric Division, Galliera Hospital, Genoa, Italy
E. Gandini
Affiliation:
Department of Medical Genetics, University of Rome, Italy
*
Cattedra di Genetica Medica, Ospedale Spallanzani, Via Portuense 292, 00149 Roma, Italy

Abstract

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Two unrelated patients carrying imbalances involving the long arm of chromosome 6 are described. In the first trisomy 6q21→qter had segregated from a maternal translocation t(6 ; 16)(q15 ; q24). The clinical data of the proposita are compared with those of three other published cases. A partial 6q trisomy syndrome is postulated characterized by: growth deficiency of prenatal onset, psychomotor retardation, craniofacial abnormalities (microcephalia, hypertelorism, downward slanting palpebral fissures, flattened nasal bridge, long philtrum, hypoplastic perioral features, large jaw resulting in a round appearance of the face, receding chin, malformed ears) and dysmorphic extremities (contractures of limbs due to short flexor tendons, hypoplastic fingers, toes and nails). In the second case, monosomy 6q221→qter resulted from a de novo rearrangement and was responsible for mental retardation and facial dysmorphism (reduced biparietal diameter, hypotelorism, absent eyebrows, prominent nose, ptosis, receding chin, dysmorphic ears). Studies of HLA and PGM3 segregation showed normal inheritance patterns and ruled out the location of these genes in bands 6q221→qter.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 27 , January 1978 , pp. 57 - 66
Copyright
Copyright © The International Society for Twin Studies 1978

References

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