A new syndrome of proximal deletion of the long arm of chromosome 1: 1q21–23→1q25

Abstract

We present two unrelated children with the de novo interstitial deletion of the proximal segment of the long arm of chromosome 1 (lq21-23-lq2.5). Comparison of the phenotypic characteristics of these two patients with those of two previously described patients with similar deletion confirms the existence of the proximal Iq deletion syndrome. The characteristics of this newly recognized deletion syndrome include pre-and postnatal growth retardation; severe psychomotor retardation; microbrachycephaly ; sparse, fine scalp hair and eyebrows; cleft lip and palate; hernias; genitalia defects; small hands and feet; and clinodactyly of the fifth fingers.

A patient defines the interstitial 1q deletion syndrome characterized by antithrombin III deficiency

“…The main features seemed to be high forehead; sparse ®ne hair; long philtrum; thin lips; downturned upper lip; low-set, posteriorly rotated ears with anteverted helix; short neck; brachydactyly; and broad thumb/toe. Nevertheless, the facial appearance was not distinctive: our patient resembles the case of Zaletaev et al [1987] and that of Garver et al [1976], but not the case 2 of Taysi et al [1982], who appears similar to the case of Scarbrough et al [1988].…”

“…We performed a review of the literature on proximal and intermediate deletion 1q syndrome, and we hypothesize the existence of only one 1q interstitial deletion syndrome, clinically characterized by ATIII de®ciency. ß 2001 Wiley-Liss, Inc.KEY WORDS: chromosomal abnormality; interstitial del(1q) syndrome; antithrombin III; coagulation factor V; coagulation factor XIII; broad thumb/ toe; psychomotor delay Since 1974 [Crandall andFalk, 1974], two distinct syndromes resulting from proximal 1q21-q25 and intermediate 1q24-q32 monosomies [Taysi et al, 1982] have been recognized in 15 and 9 cases, respectively. …”

A de novo 1q22q23.1 Interstitial Microdeletion in a Girl with Intellectual Disability and Multiple Congenital Anomalies Including Congenital Heart Defect

“…Interstitial deletions of the medial long arm of chromosome 1 are rare. More than 10 patients with interstitial deletions that include all or part of 1q22q23 have been reported to date [de Pablo et al, 1980;Moghe et al, 1981;Taysi et al, 1982;Beemer et al, 1985;Leichtman et al, 1993;Melis et al, 1998;Schinzel, 2001;Quinonez et al, 2012]. The most common anomalies observed in patients include DD/ID, postnatal growth deficiency, congenital heart defects, and dysmorphic features.…”

De novo Deletion of 1q31.1–q32.1 in a Patient with Developmental Delay and Behavioral Disorders

“…The principal features of patients with a 1q deletion are microcephaly, pre-and postnatal growth retardation, psychomotor retardation, abnormal ears and micrognathia, small hands and feet, and brachydactyly [Schwanitz et al, 1977;de Pablo et al, 1980;Schinzel and Schmid, 1980;Higgins et al, 1982;Martin and Simpson, 1982;Taysi et al, 1982;Silengo et al, 1984;Beemer et al, 1985;Zaletaev et al, 1987;Franco et al,1991;Leichtman et al,1993;Lo et al,1993].…”

“…They have been conventionally classified into 3 groups: 1q21-q25, 1q25-q32, and 1q42-qter [Schinzel and Schmid, 1980;Taysi et al, 1982]. Pallotta et al [2001] described a patient with a deletion encompassing 1q23-q31.2, overlapping the proximal and intermediate segment.…”