De novo interstitial deletion del(1)(p21p32).

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

“…4) [Biegel et al, 1993] also developed neuroblastoma and the deleted segment in this patient includes the putative neuroblastoma locus. There are also many publications of neoplasms associated with loss of heterozygosity and cytogenetic abnormalities involving [Biegel et al, 1993], B. del(1)(p34.1p36.1) [Howard and Porteus, 1990], C. del(1)(p32.3p34.1) [Yoshino et al, 1991], D. del(1)(p32.1p32.3) [Barton et al, 1995], E. del(1)(p22.3p31.3) [Lai et al, 1991], F. del(1)(p21p22.3), our patient, G. del(1)(p32p34.3) [Köhler, 1993], H. del(1)(p22p32) [Bene et al, 1979], I. del(1)(p21p22.2) [Hertz and Jensen, 1985], J. del(1)(p22.1p32.1) [Ikeuchi et al, 1982], K. del(1)(p22.1p31.2) [Lai et al, 1991], L. del(1)(p22.1p31.2) [Petersen and Warburg, 1987], M. del(1)(p13.3p22.3) [Mattia et al, 1992], N. del(1)(p13.3p22.3) [Tabata et al, 1991]. [Biegel et al, 1993], B [Howard and Porteus, 1990], C [Yoshino et al, 1991], D [Barton et al, 1995], E [Lai et al, 1991], F Our patient, H [Bene et al, 1979], I [Hertz and Jensen, 1985], K [Lai et al, 1991], L [Petersen and Warburg, 1987], M [Mattia et al, 1992], and N [Tabata et al, 1991].…”

“…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 the short arm of chromosome 1 (46XY), del(1)(p13p22.3)

“…Howard and Porteus [19901 summarized 13 patients having various deletions of chromosome lp, including 4 patients with terminal p deletions [Aarskog, 1968;Yunis et al, 1981;Palova et al, 1985;Wenger et al, 19881; 4 patients with interstitial deletions [Bene et al, 1979;Petersen and Warburg, 1987;Ikeuchi et al, 1982;Howard and Porteus, 19901, and 5 patients with variable segment deletions of the short arm associated with a malsegregation at meiosis of a familial translocation or a de novo translocation with resultant deletion [Hain et al, 1980;Desangles et al, 1983;Steele et al, 1984;Hertz and Jensen, 19851. Although these patients share some common manifestations, there does not appear to be a clearly defined phenotype for chromosome l p deletion. In the review of Howard and Porteus [19901, 7 manifestations were found in 30% of patients: low set and malformed ears, short neck, bulbous nose, congenital heart defects, small deeply set eyes, clinodactyly of the fifth finger, and menOur patient is of interest since his deletion is the most proximal de novo interstitial deletion of chromosome l p thus far described.…”

Interstitial deletion of 1p22.2p31.1 and medium‐chain acyl‐CoA dehydrogenase deficiency in a patient with global developmental delay

“…The published literature includes reports of six cases of chromosome 1 interstitial deletions, uncomplicated by other rearrangements, that include part of the region deleted in our patient [Bene et al, 1979;Ikeuchi et al, 1982;Petersen and Warburg, 1987;Lai et al, 1991;Mircher et al, 2003]. Five of these were reviewed by Mircher et al [2003].…”