Scientific Letter
Severe low growth and 2q37 syndrome
Hipocrecimiento severo y síndrome 2q37
B. Corredor-Andrésa, M.J. Hernández-Rodrígueza, J. Martínez-Villanuevaa, M.T. Muñoz-Calvoa,b,c,
, J. Argentea,b,c
Corresponding author
a Servicio de Endocrinología, Hospital Infantil Universitario Niño Jesús, Madrid, Spain
b Departamento de Pediatría, Universidad Autónoma de Madrid, Madrid, Spain
c Centro de Investigación Biomédica Red-Fisiopatología de la Obesidad y la Nutrición (CIBERobn), Instituto de Salud Carlos III, Madrid, Spain
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"apellidos" => "Argente" "referencia" => array:3 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] 2 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] ] ] ] "afiliaciones" => array:3 [ 0 => array:3 [ "entidad" => "Servicio de Endocrinología, Hospital Infantil Universitario Niño Jesús, Madrid, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Departamento de Pediatría, Universidad Autónoma de Madrid, Madrid, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Centro de Investigación Biomédica Red-Fisiopatología de la Obesidad y la Nutrición (CIBERobn), Instituto de Salud Carlos III, Madrid, Spain" "etiqueta" => "c" "identificador" => "aff0015" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Hipocrecimiento severo y síndrome 2q37" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1049 "Ancho" => 900 "Tamanyo" => 94207 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Phenotype of patient with ring chromosome 2. Note the small palpebral fissures, epicanthus, microphthalmia and broad nasal root.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Ring chromosome 2 was first described in 1981, encompassing a set of common phenotypic characteristics such as short stature, nonspecific dysmorphic features and varying degrees of psychomotor retardation.<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">1</span></a> Ninety-nine percent of cases are sporadic.<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">2</span></a> Ring chromosome 2 is a rare chromosomal abnormality, with few cases described in the medical literature.<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">2,3</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">We present the case of a male patient aged 12 months. Symmetrical intrauterine growth restriction (IUGR) had been detected at 22 weeks’ gestation. The patient was born by elective caesarean section at 35<span class="elsevierStyleSup">+6</span> weeks’ gestation with a birth weight of 1750<span class="elsevierStyleHsp" style=""></span>g (−2.46 SD), length of 42<span class="elsevierStyleHsp" style=""></span>cm (−2.78 SD) and head circumference (HC) of 28.5<span class="elsevierStyleHsp" style=""></span>cm (−2.64 SD). The following characteristics were observed at birth: small palpebral fissures, epicanthus, microphthalmia, wide nasal root, teletelia, mild axial hypotonia, arachnodactyly, a wider-than-normal gap between the first and second toes (“sandal gap”) in both feet, and two café-au-lait spots in the dorsal region and lower right limb less than 0.5<span class="elsevierStyleHsp" style=""></span>cm in diameter. Central nervous system involvement was suspected, so a transfontanellar ultrasound examination was performed that revealed no malformations. Echocardiographic examination detected a patent foramen ovale, and abdominal ultrasonography a right pelvic kidney. Cytomegalovirus was not detected in the blood or urine. Karyotyping evinced the presence of ring chromosome 2. A 60K oligonucleotide array comparative genomic hybridization (CGH; KayroArray<span class="elsevierStyleSup">®</span> v3.0, Agilent) found a 6.45<span class="elsevierStyleHsp" style=""></span>Mb deletion in the 2q37.1–2q37.3 region. The parents were healthy and nonconsanguineous, and had normal karyotypes. The physical examination found a weight of 6300<span class="elsevierStyleHsp" style=""></span>kg (−3.55 SD), length of 67<span class="elsevierStyleHsp" style=""></span>cm (−3.55 SD) and HC of 38.4<span class="elsevierStyleHsp" style=""></span>cm (−5.51 SD for age and length). At 12 months of age, the dysmorphic features present at birth remained and were accompanied by a prominent forehead with a low-set hairline, arched eyebrows, a long philtrum, thin upper lip, low-set and rotated ears, prominent antihelix, short neck, 12 café-au-lait spots scattered through the left upper limb, right lower limb and posterior side of the thorax (the largest one 2<span class="elsevierStyleHsp" style=""></span>cm and the rest 0.5<span class="elsevierStyleHsp" style=""></span>cm in diameter), hypoplastic scrotum with presence of both testes, 2<span class="elsevierStyleHsp" style=""></span>mL in volume, and accumulation of fatty tissue in the dorsum of hands and feet (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>). The patient showed mild psychomotor retardation, predominantly motor, with hypotonia.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">Chromosome 2 is the second largest human chromosome, accounting for 8% of the genetic material. The ring fusion takes place after the break of the chromosome arms at the telomeric regions, with or without loss of genetic material. Deletions occur most commonly in the 2q37 and 2p25 regions, as they are at the distal ends of the chromosome. Cote et al. defined “ring syndrome” as a set of phenotypic manifestations observed in many patients with different ring chromosomes that were caused by mitotic instability and tissue-specific mosaicim,<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">1</span></a> with possible loss of genetic material. The most common clinical manifestations found in patients with ring chromosome 2 are: intrauterine growth restriction, microcephaly, failure to thrive, psychomotor retardation and minor dysmorphic features,<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">2,4</span></a> all of which were found in our patient. Cases in which there is loss of genetic material from the 2q37 region may also present with additional phenotypic characteristics, such as brachydactyly, obesity, hypotonia, dysmorphic facial features such as those found in our patient and joint hypermobility, and there is a higher incidence of autism spectrum disorders in these cases. Other and less frequent manifestations include congenital heart malformations such as septal defects or patent ductus arteriosus, congenital hearing loss, tracheomalacia, urogenital malformations, situs anomalies and osteopaenia.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">5</span></a> The phenotypic variability found in these patients suggests that there are various cryptogenic and environmental factors at play in the individual development of the disease.<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">2</span></a> The diagnosis is confirmed by genetic testing. The diagnosis was performed prenatally in one case reported in the literature by means of CGH arrays of amniotic fluid samples performed after detection of IUGR and lissencephaly in prenatal ultrasound examination.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">3</span></a> If mosaicism is ruled out in both parents, the recurrence risk is less than 1%. Although changes in fertility have been reported in the literature, especially in males, 50% of the offspring may inherit the ring chromosome, so genetic counselling is recommended.<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">2</span></a> These patients require followup by an interdisciplinary team with periodic evaluations.</p></span>" "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Corredor-Andrés B, Hernández-Rodríguez MJ, Martínez-Villanueva J, Muñoz-Calvo MT, Argente J. Hipocrecimiento severo y síndrome 2q37. An Pediatr (Barc). 2016;84:116–117.</p>" ] ] "multimedia" => array:1 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1049 "Ancho" => 900 "Tamanyo" => 94207 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Phenotype of patient with ring chromosome 2. Note the small palpebral fissures, epicanthus, microphthalmia and broad nasal root.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:5 [ 0 => array:3 [ "identificador" => "bib0030" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "The cytogenetic and clinical implications of a ring chromosome 2" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "G.B. Cote" 1 => "A. Katsantoni" 2 => "D. 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Kotzeva" 5 => "M. di Rocco" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1186/1755-8166-5-8" "Revista" => array:6 [ "tituloSerie" => "Mol Cytogenet" "fecha" => "2015" "volumen" => "5" "paginaInicial" => "8" "paginaFinal" => "17" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/22284936" "web" => "Medline" ] ] ] ] ] ] ] ] ] ] ] ] ] "idiomaDefecto" => "en" "url" => "/23412879/0000008400000002/v1_201601300058/S2341287915002926/v1_201601300058/en/main.assets" "Apartado" => array:4 [ "identificador" => "38181" "tipo" => "SECCION" "en" => array:2 [ "titulo" => "Scientific letters" "idiomaDefecto" => true ] "idiomaDefecto" => "en" ] "PDF" => "https://static.elsevier.es/multimedia/23412879/0000008400000002/v1_201601300058/S2341287915002926/v1_201601300058/en/main.pdf?idApp=UINPBA00005H&text.app=https://analesdepediatria.org/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2341287915002926?idApp=UINPBA00005H" ]
| Year/Month | Html | Total | |
|---|---|---|---|
| 2024 November | 8 | 20 | 28 |
| 2024 October | 47 | 43 | 90 |
| 2024 September | 64 | 39 | 103 |
| 2024 August | 53 | 51 | 104 |
| 2024 July | 42 | 37 | 79 |
| 2024 June | 42 | 41 | 83 |
| 2024 May | 38 | 39 | 77 |
| 2024 April | 53 | 35 | 88 |
| 2024 March | 45 | 30 | 75 |
| 2024 February | 40 | 28 | 68 |
| 2024 January | 41 | 25 | 66 |
| 2023 December | 46 | 22 | 68 |
| 2023 November | 42 | 23 | 65 |
| 2023 October | 62 | 27 | 89 |
| 2023 September | 41 | 18 | 59 |
| 2023 August | 42 | 14 | 56 |
| 2023 July | 56 | 25 | 81 |
| 2023 June | 59 | 26 | 85 |
| 2023 May | 72 | 33 | 105 |
| 2023 April | 39 | 24 | 63 |
| 2023 March | 56 | 28 | 84 |
| 2023 February | 40 | 25 | 65 |
| 2023 January | 44 | 28 | 72 |
| 2022 December | 62 | 38 | 100 |
| 2022 November | 51 | 40 | 91 |
| 2022 October | 65 | 26 | 91 |
| 2022 September | 50 | 44 | 94 |
| 2022 August | 48 | 47 | 95 |
| 2022 July | 43 | 39 | 82 |
| 2022 June | 32 | 37 | 69 |
| 2022 May | 41 | 31 | 72 |
| 2022 April | 39 | 39 | 78 |
| 2022 March | 62 | 44 | 106 |
| 2022 February | 70 | 28 | 98 |
| 2022 January | 84 | 26 | 110 |
| 2021 December | 79 | 35 | 114 |
| 2021 November | 84 | 62 | 146 |
| 2021 October | 46 | 68 | 114 |
| 2021 September | 39 | 47 | 86 |
| 2021 August | 38 | 45 | 83 |
| 2021 July | 26 | 38 | 64 |
| 2021 June | 52 | 39 | 91 |
| 2021 May | 41 | 29 | 70 |
| 2021 April | 79 | 73 | 152 |
| 2021 March | 43 | 35 | 78 |
| 2021 February | 44 | 30 | 74 |
| 2021 January | 40 | 22 | 62 |
| 2020 December | 69 | 37 | 106 |
| 2020 November | 37 | 19 | 56 |
| 2020 October | 38 | 16 | 54 |
| 2020 September | 38 | 25 | 63 |
| 2020 August | 36 | 12 | 48 |
| 2020 July | 49 | 20 | 69 |
| 2020 June | 34 | 12 | 46 |
| 2020 May | 45 | 23 | 68 |
| 2020 April | 29 | 13 | 42 |
| 2020 March | 19 | 17 | 36 |
| 2020 February | 24 | 24 | 48 |
| 2020 January | 23 | 19 | 42 |
| 2019 December | 26 | 26 | 52 |
| 2019 November | 15 | 9 | 24 |
| 2019 October | 21 | 12 | 33 |
| 2019 September | 23 | 17 | 40 |
| 2019 August | 31 | 12 | 43 |
| 2019 July | 30 | 22 | 52 |
| 2019 June | 77 | 19 | 96 |
| 2019 May | 139 | 21 | 160 |
| 2019 April | 86 | 58 | 144 |
| 2019 March | 45 | 17 | 62 |
| 2019 February | 38 | 11 | 49 |
| 2019 January | 32 | 18 | 50 |
| 2018 December | 45 | 27 | 72 |
| 2018 November | 64 | 38 | 102 |
| 2018 October | 63 | 23 | 86 |
| 2018 September | 31 | 12 | 43 |
| 2018 August | 4 | 0 | 4 |
| 2018 July | 3 | 0 | 3 |
| 2018 June | 8 | 0 | 8 |
| 2018 May | 2 | 0 | 2 |
| 2018 April | 20 | 0 | 20 |
| 2018 March | 16 | 0 | 16 |
| 2018 February | 16 | 0 | 16 |
| 2018 January | 13 | 0 | 13 |
| 2017 December | 24 | 0 | 24 |
| 2017 November | 10 | 0 | 10 |
| 2017 October | 13 | 0 | 13 |
| 2017 September | 8 | 0 | 8 |
| 2017 August | 12 | 0 | 12 |
| 2017 July | 11 | 0 | 11 |
| 2017 June | 23 | 7 | 30 |
| 2017 May | 10 | 7 | 17 |
| 2017 April | 9 | 4 | 13 |
| 2017 March | 7 | 2 | 9 |
| 2017 February | 6 | 7 | 13 |
| 2017 January | 6 | 3 | 9 |
| 2016 December | 17 | 20 | 37 |
| 2016 November | 28 | 16 | 44 |
| 2016 October | 35 | 11 | 46 |
| 2016 September | 39 | 1 | 40 |
| 2016 August | 28 | 4 | 32 |
| 2016 July | 19 | 5 | 24 |
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