This paper describes for the first time the clinical findings in a case of pure trisomy (1q)(q42→qter). Eight cases involving this trisomy have been reported previously, but these were complicated by additional chromosomal changes, and hence the assignation of a discrete phenotype remained doubtful. The clinical abnormalities reported here, most of which were included amongst others in the previous reports of trisomy (1q)(q42→qter), provide the basis for characterisation of this condition as a syndrome. These changes comprised macrocephaly, prominent forehead, micrognathia, large fontanelle, flat nasal bridge, low‐set ears, facial capillary naevi, cardiac defect and small size for gestational age.
The case described in this paper represents on the basis of cytogenetic evidence, the first reported example of a de novo tandem dup (5p) (p 14 --L pter). Clinical changes were minimal, unlike previously described cases in which more complex structural chromosomal changes were involved and a phenotype was provisionally attributed to dup(5p) (p14 -* pter). The duplicated segment of minimal effect identified in this case involved more than five eighths of 5p. It is proposed that there is a localised critical segment elsewhere on the short arm of chromosome 5 (plI-p13), which when duplicated is of greater significance in terms of clinical effects.
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