Interstitial deletion of the short arm of chromosome 1 (46XY), del(1)(p13p22.3)

Abstract

A male patient with a de novo proximal interstitial deletion of the short arm of chromosome 1 (46XY, del(1)(p13p22.3) is described with multiple anomalies and developmental delay. This patient's clinical manifestations are compared to previously reported patients with deletions of chromosome 1p.

Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: A brief review

“…There are six reported cases with breakpoints overlapping those of our patient [Ikeuchi et al, 1982;Hertz and Jensen, 1985;Petersen and Warburg, 1987;Lai et al, 1991;Tabata et al, 1991;Mattia et al, 1992]. The report with the closest breakpoints is a translocation involving chromosomes 1 and 2, with loss of chromosome 1 from bands p21-p22.2 (I in Fig.…”

“…The deletion reported by Mattia (M in Fig. 4) [Mattia et al, 1992] shows a large amount of overlap with our patient but the breakpoints were disputed and reassigned by Köhler (G in Fig. 4) [Köhler, 1993] to a region with no overlap to our patient.…”

“…4). Most reported cases are of children or adults with psychomotor retardation and multiple minor anomalies [Bene et al, 1979;Petersen and Warburg, 1987;Lai et al, 1991;Yoshino et al, 1991;Mattia et al, 1992;Barton et al, 1995]. Table I shows a compilation of the anomalies reported.…”

Interstitial deletion of chromosome 1 (1p21.1p12) in an infant with congenital diaphragmatic hernia, hydrops fetalis, and interrupted aortic arch

“…There have been five case reports of 1p deletions similar to our case 4, 5, 6, 7, 8. Prominent features include short stature, dysmorphic appearance, and neurodevelopmental delay (Table 1).…”

Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3)

“…4 cDNA analysis of exon 14-16 and Xanking regions of DPYD of patient 4. a shows the PCR ampliWcation of a cDNA fragment using forward and reverse primers located in exon 13 and 19, respectively, in a control and the patient. b shows a schematic representation of the deleted region and its eVect on the splicing of the DPD pre-mRNA and the generation of a mutant DPD mRNA Interstitial deletions of the short arm of chromosome 1 are rare (Bisgaard et al 2007;Dockery and Van der Westhuyzen 1991;Mattia et al 1992;Tabata et al 1991). The phenotypic features in the few patients described with a comparable proximal interstitial deletion are summarised in Table 1 and are comparable to those of patient 5.…”