Trisomy 20q13 → 20qter in a girl with multiple congenital malformations and a recombinant chromosome 20 inherited from a paternal inversion (20)(p13q13.1): Clinical report and review of the trisomy 20q phenotype

Article · Literature Review · September 2005with149 Reads
DOI: 10.1002/ajmg.a.30877 · Source: PubMed
Abstract
We report on a patient with a rec(20)dup(20q) chromosome abnormality derived from a paternal chromosome 20 inversion [inv(20)(p13q13.1)]. The rearrangement results in a duplication of 20q13.1 to 20qter and a deletion of 20p13 to 20pter. The patient is a girl with craniofacial features and multiple congenital malformations that overlap with the abnormalities previously described in trisomy 20q syndrome. To our knowledge this is the first report of a patient with rec(20)dup 20q. © 2005 Wiley-Liss, Inc.
    • Our patient is the most severely affected of all of the previous patients reported with similar duplications and even with extraordinary medical efforts did not survive infancy. The female previously described with a paternal pericentric inversion [Grange et al., 2005], had duplication 20q13.1 to 20qter and deletion 20p13 to 20pter. She shares many features with our patient, including deep-set eyes, large and long ears, receding chin, chin dimple, short neck, cardiac malformations, and intestinal malrotation.
    [Show abstract] [Hide abstract] ABSTRACT: Duplications of the terminal long arm of chromosome 20 are rare chromosomal anomalies. We report a male infant found on array comparative genomic hybridization analysis to have a 19.5 Mb duplication of chromosome 20q13.12-13.33, as well as an 886 kb deletion of 20p13 at 18,580-904,299 bp. This anomaly occurred as the recombinant product of a paternal pericentric inversion. There have been 23 reported clinical cases involving 20qter duplications; however, to our knowledge this is only the second reported patient with a paternal pericentric inversion resulting in 46,XY,rec(20)dup(20q). This patient shares many characteristics with previously described patients with 20qter duplications, including microphthalmia, anteverted nares, long ears, cleft palate, small chin, dimpled chin, cardiac malformations, and normal intrauterine growth. While there is variable morbidity in patients with terminal duplications of 20q, a review of previously reported patients and comparison to our patient's findings shows significant phenotypic similarity. © 2014 Wiley Periodicals, Inc.
    Full-text · Article · Aug 2014
    • Most of these are not pure trisomies, but are combined with complex rearrangements [Courtens et al., 2007]. Most common features in these patients are brachycephaly, bulging forehead, deep-set eyes, short nose, large ears, dimpled chin, heart defects, hydrocephalus, cortical atrophy, cerebellar atrophy [Herens et al., 1990; Addor et al., 2002; Plotner et al., 2002; Grange et al., 2005] and phenotypes vary from mildly to severely affected. Some of these features are easily recognizable in our Patients1 and 2. A submicroscopic 20q13.1-qter
    [Show abstract] [Hide abstract] ABSTRACT: The combination of megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus (MPPH) is a rare syndrome of unknown cause. We observed two first cousins affected by an MPPH-like phenotype with a submicroscopic chromosome 5q35 deletion as a result of an unbalanced der(5)t(5;20)(q35.2;q13.3) translocation, including the NSD1 Sotos syndrome locus. We describe the phenotype and the deletion breakpoints of the two MPPH-like patients and compare these with five unrelated MPPH and Sotos patients harboring a 5q35 microdeletion. Mapping of the breakpoints in the two cousins was performed by MLPA, FISH, high density SNP-arrays and Q-PCR for the 5q35 deletion and 20q13 duplication. The 5q35 deletion area of the two cousins almost completely overlaps with earlier described patients with an atypical Sotos microdeletion, except for the DRD1 gene. The five unrelated MPPH patients neither showed submicroscopic chromosomal aberrations nor DRD1 mutations. We reviewed the brain MRI of 10 Sotos patients and did not detect polymicrogyria in any of them. In our two cousins, the MPPH-like phenotype is probably caused by the contribution of genes on both chromosome 5q35 and 20q13. Some patients with MPPH may harbor a submicroscopic chromosomal aberration and therefore high-resolution array analysis should be part of the diagnostic workup.
    Full-text · Article · Jun 2010
    • There have been several reports describing recombinant aneusomy resulting from pericentric inversions of chromosome 20. However, these previous reports of pericentric inversions of chromosome 20 have been cytogenetically visible by G-banding analysis and their recombinant outcomes have therefore resulted in larger deleted and duplicated regions of 20p and 20q [Bown et al., 1986; Grange et al., 2005; Lucas et al., 1985; Molina-Gomes et al., 2006]. Our review will focus on submicroscopic aberrations of 20p and 20q, as is the case in the two individuals we present here.
    [Show abstract] [Hide abstract] ABSTRACT: Two brothers, with dissimilar clinical features, were each found to have different abnormalities of chromosome 20 by subtelomere fluorescence in situ hybridization (FISH). The proband had deletion of 20p subtelomere and duplication of 20q subtelomere, while his brother was found to have a duplication of 20p subtelomere and deletion of 20q subtelomere. Parental cytogenetic studies were initially thought to be normal, both by G-banding and by subtelomere FISH analysis. Since chromosome 20 is a metacentric chromosome and an inversion was suspected, we used anchored FISH to assist in identifying a possible inversion. This approach employed concomitant hybridization of a FISH probe to the short (p) arm of chromosome 20 with the 20q subtelomere probe. We identified a cytogenetically non-visible, mosaic pericentric inversion of one of the maternal chromosome 20 homologs, providing a mechanistic explanation for the chromosomal abnormalities present in these brothers. Array comparative genomic hybridization (CGH) with both a custom-made BAC and cosmid-based subtelomere specific array (TEL array) and a commercially available SNP-based array confirmed and further characterized these rearrangements, identifying this as the largest pericentric inversion of chromosome 20 described to date. TEL array data indicate that the 20p breakpoint is defined by BAC RP11-978M13, approximately 900 kb from the pter; SNP array data reveal this breakpoint to occur within BAC RP11-978M13. The 20q breakpoint is defined by BAC RP11-93B14, approximately 1.7 Mb from the qter, by TEL array; SNP array data refine this breakpoint to within a gap between BACs on the TEL array (i.e., between RP11-93B14 and proximal BAC RP11-765G16).
    Article · Feb 2010
    • In particular, claims or inferences of intellectual disability are often unsubstantiated by psychometric data, appearing instead to be derived from anecdotal observation or speculation rather than from standardised cognitive testing (e.g., Coco & Penchaszadeh, 1978; Moreau & Teyssier, 1982; Wieczorek et al., 1998). In the absence of psychometric data, evidence of abnormal cerebral imaging is sometimes cited as sufficient grounds for presumptions of severe intellectual disability (Feenstra, van Ravenswaaij, van der Knaap & Willemsen, 2006; Vermeer et al., 2007) and at other times useful developmental descriptions are offered to support claims of developmental delay (e.g., Asai et al., 1992; Grange, Garcia-Heras, Kilani, & Lamp, 2005; Mircher et al., 2003; Sathya, Tomkins, Freeman, Paes & Nowaczyk, 1999) although interpretations are dubious at times. For example, Stalker, Gray, Bent-Williams and Zori (2006) decided that developmental milestones such as walking at 15 months and first words at 12 months of age represented delays, when in fact both of these milestones are within normal limits.
    Full-text · Article · Jan 2009 · Clinical Dysmorphology
    • However, it remains difficult to assess the phenotypic impact of these monosomies insofar as they are potentially able to modulate the phenotype dramatically in spite of their small length. We propose a phenotypic comparison of five such cases [Sax et al., 1986; Herens et al., 1990; Addor et al., 2002; Plotner et al., 2002; Grange et al., 2005], the isolated duplication 20q13.2q13.2 described by Iglesias et al. and our patient (Table II).
    [Show abstract] [Hide abstract] ABSTRACT: We report on a 3-year-old boy with moderate developmental delay, abnormal craniofacial features and ventricular septal defect resulting from trisomy of the long arm of chromosome 20. The cytogenetic defect consists of a de novo isolated interstitial duplication in distal 20q [dup(20)(q13.2q13.2)]. The duplication was detected by comparative genomic hybridization (CGH) and confirmed by array CGH. Other cases of comparable trisomies are reviewed. This new case further delineates the recognizable phenotype of trisomy 20q13 --> 20qter and highlights the relevance of CGH for the detection of such rearrangements.
    Full-text · Article · May 2008
    • Considering the phenotypic features in patients with terminal trisomy 20q (20q13.1-qter), as summarized by Grange et al. (2005), it is also difficult to contribute them with certainty to the trisomy 20q as all these patients also had an associated monosomy. A very small or subtelomeric 20q duplication, as found in our patient, has been described in only four reports so far (Table 2).
    [Show abstract] [Hide abstract] ABSTRACT: We report on a 2-year-old dysmorphic girl with prenatal and postnatal growth deficiency, cardiopathy, left-sided hydronephrosis due to pyelourethral junction stenosis, frequent respiratory infections and psychomotor retardation, in whom a de novo unbalanced submicroscopic translocation (11q;20q) was detected by subtelomeric multiplex ligation-dependent probe amplification and fluorescence in situ hybridization analyses. Additional fluorescence in situ hybridization studies with locus-specific BAC probes and analyses with microsatellite markers revealed that this translocation resulted in a paternal chromosome 11q terminal deletion of approximately 8.9 Mb and a subtelomeric 20q duplication of approximately 3.7 Mb. A subtelomeric 20q trisomy has only been reported in four cases so far. A subtelomeric 11q deletion has been clinically reported in 18 patients. We review the clinical phenotype of these patients. We suggest that patients with a subterminal (11q24.2/25-qter) deletion may present with features of the well-known phenotype of terminal 11q deletion or Jacobsen syndrome.
    Full-text · Article · Nov 2007
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