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

Department of Pediatrics, Division of Medical Genetics, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
American Journal of Medical Genetics Part A (Impact Factor: 2.16). 09/2005; 137A(3):308-12. DOI: 10.1002/ajmg.a.30877
Source: PubMed


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.

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    • "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. "
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    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.
    American Journal of Medical Genetics Part A 08/2014; 164A(8). DOI:10.1002/ajmg.a.34020 · 2.16 Impact Factor
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    • "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). "
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    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.
    American Journal of Medical Genetics Part A 05/2008; 146A(10):1307-11. DOI:10.1002/ajmg.a.32278 · 2.16 Impact Factor
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    • "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). "
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    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.
    Clinical Dysmorphology 11/2007; 16(4):231-9. DOI:10.1097/MCD.0b013e3282742303 · 0.61 Impact Factor
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