“de novo” trisomy 1q32→1qter and monosomy 3p25→3pter

Yunis, Emilio; Egel, Hernán; Zúñiga, Ruth; Ramirez, E; Caballero, Olga María Torres de; Leibovici, Myriam

doi:10.1007/bf00390442

Cited by 26 publications

(11 citation statements)

References 5 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The first known case was reported in 1976 by Mankinen et al [1976] who employed C-banding to describe a 1q deletion in a 3-year-old girl with microcephaly and seizures. Yunis et al [1977] reported the first recognized case of a 1qter duplication in 1977 through the application of G-banding, and a number of recognized 1qter duplication cases followed in the same year. Such 1qter chromosomal duplications and their accompanying range of clinical features were first proposed as a syndrome in 1979 by Liberfarb et al [1979], although their analysis was limited by the relatively small number of available cases, which had substantial clinical heterogeneity.…”

Section: Introductionmentioning

confidence: 96%

Reinforcing the association between distal 1q CNVs and structural brain disorder: A case of a complex 1q43‐q44 CNV and a review of the literature

Hemming

Forrest

Shipman

et al. 2016

American J of Med Genetics Pt B

View full text Add to dashboard Cite

Copy Number Variations (CNVs) comprising the distal 1q region 1q43-q44 are associated with neurological impairments, structural brain disorder, and intellectual disability. Here, we report an extremely rare, de novo case of a 1q43-q44 deletion with an adjacent duplication, associated with severe seizures, microcephaly, agenesis of the corpus callosum, and pachygyria, a consequence of defective neuronal migration disorder. We conducted a literature survey to find that our patient is only the second case of such a 1q43-q44 CNV ever to be described. Our data support an association between 1q43-q44 deletions and microcephaly, as well as an association between 1q43-q44 duplications and macrocephaly. We compare and contrast our findings with previous studies reporting on critical 1q43-q44 regions and their constituent genes associated with seizures, microcephaly, and corpus callosum abnormalities [Ballif et al., 2012; Hum Genet 131:145-156; Nagamani et al., 2012; Eur J Hum Genet 20:176-179]. Taken together, our study reinforces the association between 1q43-q44 CNVs and brain disorder.

show abstract

Section: Introductionmentioning

confidence: 96%

Reinforcing the association between distal 1q CNVs and structural brain disorder: A case of a complex 1q43‐q44 CNV and a review of the literature

Hemming

Forrest

Shipman

et al. 2016

American J of Med Genetics Pt B

View full text Add to dashboard Cite

show abstract

“…Two cases of partial trisomy l q (q23+ q44 and q32+q44) with additional monosomy of a terminal 3p-segment (p25-+p27), although fitting well into the general concept, exhibited slightly different phenotypical signs, one with more severe, one with less severe malformations (Norwood & Hoehn 1974, Yunis et al 1977. Whether these were determined by the accompanying monosomy, or simply express the variability of the partial trisomy l q syndrome, cannot be decided until more cases are known.…”

Section: Cytogenetic Examinutionmentioning

confidence: 99%

“…Among the seven cases* of partial trisomy l q reported so far, four were the unbalanced product of a balanced translocation carrier parent (van den Berghe et al 1973, Neu & Gardner 1973, Nonvood & Hoehn 1974, Garret et al 1975, one was the result of a tandem duplication (Steffensen et al 1977), and two cases were regarded as d e novo translocations (Yunis et al 1977, Zuffardi et al 1977.…”

mentioning

confidence: 99%

Partial trisomy 1q syndrome

Rehder

Friedrich

1979

Clinical Genetics

View full text Add to dashboard Cite

show abstract

“…As a result, most of the alterations of the diverse cases are privative of a given patient. When considering the first eight cases reported with a der(3)t(1;3) (Table 1) [1-4], 50% have break points with a longer chromosome fragment implicated than in our patient. In fact, the patients with a more similar phenotype to our patient are the ones reported by Sunaga et al, [5] which have break points in 1q42 and 3p26.…”

Section: Discussionmentioning

confidence: 72%

“…There are 14 patients reported with trisomy 1q and monosomy 3p deriving from a t(1;3) which per se is an infrequent event (Table 1) [1-7]. The clinical characteristics of distal trisomy 1q syndrome have been described in several cases but a precise characterization of the syndrome has not been achieved (Table 2) [8-21].…”

Section: Introductionmentioning

confidence: 99%

Trisomy 1q41-qter and monosomy 3p26.3-pter in a family with a translocation (1;3): further delineation of the syndromes

et al. 2014

View full text Add to dashboard Cite

BackgroundTrisomy 1q and monosomy 3p deriving from a t(1;3) is an infrequent event. The clinical characteristics of trisomy 1q41-qter have been described but there is not a delineation of the syndrome. The 3p25.3-pter monosomy syndrome (MIM 613792) characteristics include low birth weight, microcephaly, psychomotor and growth retardation and abnormal facies.Case presentationA 2 years 8 months Mexican mestizo male patient was evaluated due to a trisomy 1q and monosomy 3p derived from a familial t(1;3)(q41;q26.3). Four female carriers of the balanced translocation and one relative that may have been similarly affected as the proband were identified. The implicated chromosomal regions were defined by microarray analysis, the patient had a trisomy 1q41-qter of 30.3 Mb in extension comprising about 240 protein coding genes and a monosomy 3p26.3-pter of 1.7 Mb including only the genes CNTN6 (MIM 607220) and CHL1 (MIM 607416), which have been implicated in dendrite development. Their contribution to the phenotype, regarding the definition of trisomy 1q41-qter and monosomy 3p26.3-pter syndromes are discussed.ConclusionWe propose that a trisomy 1q41-qter syndrome should be considered in particular when the following characteristics are present: postnatal growth delay, macrocephaly, wide fontanelle, triangular facies, frontal bossing, thick eye brows, down slanting palpebral fissures, hypertelorism, flat nasal bridge, hypoplasic nostrils, long filtrum, high palate, microretrognathia, ear abnormalities, neural abnormalities (in particular ventricular dilatation), psychomotor developmental delay and mental retardation. Our patient showed most of these clinical characteristics with exception of macrocephaly, possibly due to a compensatory effect by haploinsufficiency of the two genes lost from 3p. The identification of carriers has important implications for genetic counseling as the risk of a new born with either a der(3) or der(1) resulting from an adjacent-1 segregation is of 25% for each of them, as the products of adjacent-2 or 3:1 segregations are not expected to be viable.

show abstract

“de novo” trisomy 1q32→1qter and monosomy 3p25→3pter

Cited by 26 publications

References 5 publications

Reinforcing the association between distal 1q CNVs and structural brain disorder: A case of a complex 1q43‐q44 CNV and a review of the literature

Reinforcing the association between distal 1q CNVs and structural brain disorder: A case of a complex 1q43‐q44 CNV and a review of the literature

Partial trisomy 1q syndrome

Trisomy 1q41-qter and monosomy 3p26.3-pter in a family with a translocation (1;3): further delineation of the syndromes

Contact Info

Product

Resources

About