A Patient With a Partial Deletion of the Short Arm of Chromosome 3

Abstract

The case of a patient with a monosomy 3p25, due to a deletion of the distal part of chromosome 3, is presented. To our knowledge this is the first patient described with this anomaly. Severe psychomotor retardation, an asymmetric skull, the facial appearance, and ear anomalies were the most striking features on examination. The parental karyotypes were normal. The localization of the breakpoint, and the possibility of roentgenographic influence in the etiology of this case are discussed.

Clinical characterization of a Korean case with 3p25 deletion

“…Deletions at the terminal end of the short arm or an interstitial deletion of chromosome 3 are characterized by a recognizable phenotype such as low birth weight (52.9%), microcephaly (43.1%), hypertelorism (51.0%), ptosis (31.4%), and a varying degree of growth and mental retardation (80.4%) ( [15]. Since then, more than 50 cases of children with this condition have been described.…”

Interstitial deletion 3p associated with t(3p−;18q+) translocation

“…The most of these reports dealt with either cases of partial trisomy or recombinant type al;normality. In only two cases was simple 3p monosomy descril;ed (FineNan'et al, 1978;Verjaal and Nef, 1978). The monosomic segment was from 3p25 to 3pter in both cases.…”

Deletion of Short Arm of Chromosome 3 in a Saudi Girl

“…It has been reported in several populations and ethnic groups. [1][2][3][4][5][6][7][8][9][10][11][12][13] This is the first reported case in Saudi Arabia and, to our knowledge, the first case to be reported in a patient of Arab descent.…”

“…Until now, about 14 cases have been reported in the world literature, and none in the Arab ethnic group. [1][2][3][4][5][6][7][8][9][10][11][12][13] The characteristic features of the syndrome are so consistent that diagnosis may be suspected on a clinical basis (Table 1). 8 Cytogenetic analysis revealed that the terminal deletion involved bands distal to 3p25.2.…”