Proximal trisomy 1q in a girl with developmental delay and minor anomalies

Abstract

We report on a girl with developmental delay, macrocephaly, facial asymmetry, small downturned palpebral fissures, high and narrow palate, micrognathia, short neck, a heart defect, and unilateral renal agenesis. Cytogenetic analysis showed a proximal tandem duplication of the long arm of chromosome one (1q12→q21.3). This abnormality was suggested by G‐ and C‐banding but it was specifically characterized by fluorescent in situ hybridization (FISH). Clinical findings in our patient are compared with those of the literature in an attempt to delineate the phenotype in patients with proximal 1q duplication. © 1996 Wiley‐Liss, Inc.

Boy with an interstitial 1q (q31q41) duplication confirmed by fluorescent in situ hybridisation

“…The largest duplication of chromosome 1 reported in a live-born child involved the region 1q24-qter [Zuffardi et al, 1977]. Interstitial duplications of 1q are rarely seen [Flatz and Fonatsch, 1979;Furforo et al, 1996;Lungarotti et al, 1980;Palmer et al, 1977;Schinzel, 1979;Steffensen et al, 1977]. In most of reported cases with duplications of chromosome 1 a rearrangement has occurred with involvement of another chromosome as results from unbalanced translocations [Chia et al, 1988;DuPont et al, 1994;Fryns et al, 1980;Johnson, 1991;Kennerknecht et al, 1993;Liberfarb et al, 1979;Rasmussen et al, 1990;Rehder and Friedrich, 1979;Rosenthal et al, 1987;Schinzel, 1981;Watson et al, 1990;Verschuuren-Bemelmans et al, 1995].…”

Hereditary duplication of proximal chromosome 1q (q11q22) in a patient with T lymphoblastic lymphoma/leukaemia: a family study using G banding and comparative genomic hybridisation

“…20 Proximal duplication of 1q is rare with involvement of regions closely related to q11-22 being reported in six patients (q11-22, q12-23, q12-25, q12-21.3, q12-22, q11-25) so far. [21][22][23][24][25][26] A majority showed mosaicism with the presence of variable proportions of the normal clone. All the six cases were characterised by multiple dysmorphic features, congenital malformations, or psychomotor retardation.…”

“…The patients' mother and also their father if available for analysis showed a normal cytogenetic picture, confirming that they were de novo constitutional disorders. [21][22][23][24][25][26] However, no associ-ation with malignancies was observed. By contrast, our current patient had a normal phenotype without any of the abnormal phenotypic features observed in previous cases of proximal 1q duplication but did have T lymphoblastic lymphoma/leukaemia, which has not been associated with proximal 1q duplications, constitutional or somatic.…”

Proximal trisomy of 1q mosaicism in a girl with hypertrophic cardiomyopathy associated with Wolff-Parkinson-White syndrome and multiple congenital anomalies

“…Proximal duplications of chromosome 1q have rarely been reported in the literature. Although heart disease has been reported in two cases, the lesions were patent ductus arteriosus or pulmonary artery stenosis [Chen et al, 1994;Furforo et al, 1996]. The clinical ®ndings in the current case are of particular interest because the child has hypertrophic cardiomyopathy (HCM) and evidence of Wolff-Parkinson-White (WPW) on ECG, as well as multiple congenital anomalies.…”

“…Although heart disease has been reported in two cases, the lesions were patent ductus arteriosus or pulmonary artery stenosis [Chen et al, 1994;Furforo et al, 1996]. Although heart disease has been reported in two cases, the lesions were patent ductus arteriosus or pulmonary artery stenosis [Chen et al, 1994;Furforo et al, 1996].…”