Duplication of 7p: Further delineation of the phenotype and restriction of the critical region to the distal part of the short arm

Abstract

We report on a patient with duplication of 7p15→pter and review the literature. Patients with partial duplication of the distal 7p, including only the distal segment 7p15→pter, have a syndrome comparable to that of patients with a larger or complete duplication of 7p. This suggests that the critical region for the dup(7p) phenotype is restricted to 7p15→pter. The complete clinical phenotype of dup(7)(p15→pter) includes mental retardation, skull anomalies, large anterior fontanel, cardiovascular defects, joint dislocation and contraction, and gastrointestinal and genital defects. Recognition of the clinical spectrum in patients with a smaller duplication of 7p, and the assignment of this critical region, should prove valuable for accurate counseling, prediction of outcome, and further gene mapping. © 1995 Wiley‐Liss, Inc.

Partial trisomy 7p defined by analysis of a complex chromosome rearrangement using a BAC clone panel

“…Our final interpretation of the CCR in the mother is as follows: ins(2;7)inv (7) Through the use of the BAC clone panel, the chromosome abnormality in our patient was conclusively identified as a partial trisomy of the short arm of chromosome 7 (7p12.237p21.3). Full or partial trisomy (duplication) 7p has been reported previously in 47 cases (for recent reviews see Cai et al, 1999;Pallotta et al, 1996;Reish et al, 1996;Lurie et al, 1995;Schaefer et al, 1995). 4 -8 Although the extent of the duplication varies among patients, a characteristic phenotype has emerged.…”

De Novo Duplication of 7p21.1p22.2 in a Child with Autism Spectrum Disorder and Craniofacial Dysmorphism

“…[1][2][3][4][5][6][7][8][9][10][11][12][13] Common features include craniofacial anomalies, a large fontanelle, dysmorphism and psychomotor delay, with hypotonia being the most common complication observed. [1][2][3][4][5][6][7][8]10,11,13 In their review of the literature, Cai et al found that 50% of 7p duplications were the result of balanced reciprocal translocation carriers. 3 Reish et al suggested that these could be an entire duplication duplication.…”

“…2,3 The critical region for physical and mental abnormalities is 7p15-pter; 2 for craniofacial dysmorphism, it is 7p21. 2,3,9 Both these patient groups, viz. those with physical and mental abnormalities, have many specific features in common.…”

“…Analysis using CytoSure of 7p in a few cases or smaller terminal 7p segments in others. 2 Arens et al reported complete 7p trisomy (without the involvement of any other chromosomes) in two patients. 6 Similar diagnoses have been made in five other patients.…”

Cardiac malformation of partial trisomy 7p/monosomy 18p and partial trisomy 18p/monosomy 7p in siblings as a result of reciprocal unbalanced malsegregation—and review of the literature

“…The 7p duplications often result from malsegregation of parental balanced translocations [4,37]. In these patients, poor prognosis quo ad vitam was associated with cardiovascular malformations [1,11,25].…”