Duplication dup(1)(q41q44) defined by fluorescence in situ hybridization: delineation of the ‘trisomy 1q42→qter syndrome’

Coccé, Mariela C.; Villa, Olaya; Obregón, María Gabriela; Salido, Marta; Barreiro, Cristina; Solé, Françesc; Gallego, Marta S.

doi:10.1159/000106446

Cited by 17 publications

(12 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…There are three patients with smaller duplications within the 1q42qter region and all three have macrocephaly. The duplications are in 1q44qter, 1q4243, and 1q43 [Villa et al, ; Morava et al, ; Coccé et al, ]. Since cytogenetic and early BAC probe “calls” of duplicated regions were not precise and part of AKT3 is within 1q43 and another portion is within 1q44 [Kent et al, ] it is quite possible that AKT3 is duplicated in all three of these patients.…”

Section: Discussionmentioning

confidence: 99%

Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44

Wang

Zeesman

Tarnopolsky

et al. 2013

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Somatic and germline duplications of AKT3 and activating mutations of this gene have been reported in individuals with megalencephaly and hemimegalencephaly. We report on a patient with macrocephaly and a 3 Mb duplication on 1q43q44 that includes AKT3. This duplication was detected by array comparative genomic hybridization. The patient presented with moderate developmental delays in gross motor movements and speech. She also had macrocephaly, frontal bossing, hypertelorism, wide nasal bridge, small alae nares, short philtrum, prominent upper lip, and low-set, protruding ears. The 3 Mb duplicated region contained 15 genes including AKT3. The observation of megalencephaly in a child with 1q43q44 duplication provides further evidence of involvement of AKT3 dosage imbalances in brain growth disturbance.

show abstract

Section: Discussionmentioning

confidence: 99%

Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44

Wang

Zeesman

Tarnopolsky

et al. 2013

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

“…Partial 1q trisomy syndrome is a rare disorder, with only a few cases reported to date [Nowaczyk et al, ; Cocce et al, ; Kulikowski et al, ; Balasubramanian et al, ]. The major symptoms include short stature, multiple minor anomalies, and intellectual disability.…”

Section: Introductionmentioning

confidence: 99%

Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome

Watanabe

Shimizu

Ohashi

et al. 2016

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Partial 1q trisomy syndrome is a rare disorder. Because unbalanced chromosomal translocations often occur with 1q trisomy, it is difficult to determine whether patient symptoms are related to 1q trisomy or other chromosomal abnormalities. The present study evaluated genotype-phenotype correlations of 26 cases diagnosed with 1q partial trisomy syndrome. DNA microarray was used to investigate the duplication/triplication region of 16 cases. Although there was no overlapping region common to all 26 cases, the 1q41-qter region was frequently involved. One case diagnosed as a pure interstitial trisomy of chromosome 1q by G-banded karyotype analysis was instead found to be a pure partial tetrasomy by CytoScan HD Array. In four 1q trisomy syndrome cases involving translocation, the translocated partner chromosome could not be detected by DNA microarray analyzes despite G-banded karyotype analysis, because there were a limited number of probes available for the partner region. DNA microarray and G-banded karyotyping techniques were therefore shown to be compensatory diagnostic tools that should be used by clinicians who suspect chromosomal abnormalities. It is important to continue recruiting affected patients and observe and monitor their symptoms to reveal genotype-phenotype correlations and to fully understand their prognosis and identify causal regions of symptoms.

show abstract

“…Comparison of clinical features shows (Table 1) that macrocephaly, prominent forehead, hypertelorism, intellectual disability, and development delay are the most frequent findings. [12,17,18] Cardiac anomalies have also been reported in patients with pure 1q terminal duplications, especially in duplications including bands 1q43 and q44. [19,20] Atrial septum defect, bicuspid aortic valve, and dilatation of aorta are present in our patient III.4, while other reported patient with a similar translocation t(1;21)(q42.3;q22.3) did not demonstrate any cardiac anomalies.…”

Section: Discussionmentioning

confidence: 99%