Opitz “C” trigonocephaly‐like syndrome in a patient with terminal deletion of 2p and partial duplication of 17q

Czakó, Márta; Riegel, Mariluce; Morava, Éva; Bajnóczky, K; Kosztolányi, György

doi:10.1002/ajmg.a.30249

Cited by 22 publications

(17 citation statements)

References 12 publications

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“…Furthermore, Czakó et al 2 reported a patient with a paternal 2pter deletion but without the Prader-Willi-like phenotype. In this case, the associated 17q25-qter duplication could mask the phenotype, as ascertained by a rapid review of the literature revealing that patients with 17q25-qter duplication present with severe ID, growth retardation, and facial features resembling those described by Czakó et al 2,24 The role of the parental origin of the deletion needs to be further evaluated.…”

Section: Id/behavioural Troublesmentioning

confidence: 80%

“…[1][2][3][4][5][6][7][8] Becker et al 6 reported a patient with a de novo pure 2p25.2 deletion, bilateral severe talipes equinovarus, pulmonary valve stenosis, nasal polyps, mild psychomotor retardation, and overweightness with food seeking behaviour. Several patients were then reported presenting with obesity, intellectual disability (ID), and 2p25 deletion.…”

Section: Introductionmentioning

confidence: 99%

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Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes

et al. 2013

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Obesity is a common but highly, clinically, and genetically heterogeneous disease. Deletion of the terminal region of the short arm of chromosome 2 is rare and has been reported in about 13 patients in the literature often associated with a Prader-Willi-like phenotype. We report on five unrelated patients with 2p25 deletion of paternal origin presenting with earlyonset obesity, hyperphagia, intellectual deficiency, and behavioural difficulties. Among these patients, three had de novo pure 2pter deletions, one presented with a paternal derivative der(2)t(2;15)(p25.3;q26) with deletion in the 2pter region and the last patient presented with an interstitial 2p25 deletion. The size of the deletions was characterized by SNP array or array-CGH and was confirmed by fluorescence in situ hybridization (FISH) studies. Four patients shared a 2p25.3 deletion with a minimal critical region estimated at 1.97 Mb and encompassing seven genes, namely SH3HYL1, ACP1, TMEMI8, SNTG2, TPO, PXDN, and MYT1L genes. The fifth patient had a smaller interstitial deletion encompassing the TPO, PXDN, and MYT1L genes. Paternal origin of the deletion was determined by genotyping using microsatellite markers. Analysis of the genes encompassed in the deleted region led us to speculate that the ACP1, TMEM18, and/or MYT1L genes might be involved in early-onset obesity. In addition, intellectual deficiency and behavioural troubles can be explained by the heterozygous loss of the SNTG2 and MYT1L genes. Finally, we discuss the parent-of-origin of the deletion.

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Section: Id/behavioural Troublesmentioning

confidence: 80%

Section: Introductionmentioning

confidence: 99%

Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes

et al. 2013

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“…An Opitz ''C'' trigonocephaly-like syndrome was described in a patient with terminal deletion of 2p and partial duplication of 17q, derived from a paternal reciprocal translocation, 46,XY,t(2;17) (p25;q24) [Czako et al, 2004]. A case of ring chromosome 2 with growth retardation, microcephaly, mild dysmorphism, mental retardation, and microdeletion of 2p was reported [Dee et al, 2001].…”

Section: Discussionmentioning

confidence: 97%

Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23‐pter

Gruchy

Jacquemont

Lyonnet

et al. 2007

American J of Med Genetics Pt A

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Inverted duplications with terminal deletions have been reported in an increasing number of chromosomes and are probably more frequent than suspected until recently. We describe the cytogenetic and molecular characterization of an inverted duplication of chromosome 2p in an 8-year-old girl. Firstly interpreted as partial duplication 2p, the rearrangement was in fact an inverted duplication associated with a terminal deletion of the short arm of the rearranged chromosome 2, the latter not being detectable by cytogenetic analysis. The complete karyotype was: 46,XX,add(2)(p23)dn.ish inv dup del(2)(:p23.2-->p25.3::p25.3-->qter) (wcp2+,N-MYC++,2pter-)dn. We precisely define the extension of both the duplication and the deletion using bacterial artificial chromosomes clones spanning the regions. The size of the inverted duplicated segment was estimated to be 28 Mb, spanning from 2p23.2 to 2p25.3, and an approximately 1.6 Mb segment at 2pter-p25.3 was deleted in the abnormal chromosome. The physical findings noted in our patient include prominent forehead, hypertelorism, flat nasal bridge, and low-set and large ears. In addition, she had congenital heart defect and scoliosis. Her psychomotor development was severely delayed from the beginning. All these clinical features are the same as observed for the typical trisomy 2p23-pter syndrome. The phenotypic effects of the terminal deletion of 2p in addition to the trisomy are discussed. This is the third patient presenting with a severe clinical phenotype and a de novo inv dup del (2p).

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“…To our knowledge, there have been no patients with OTCS with a de novo balanced translocation. Several patients with multiple congenital anomalies resembling OTCS and a chromosome imbalance have been reported with, for example, del(2)(p25-pter)/ dup(17q24-qter), dup(3)(q27-qter), dup(3)(q23-ter)/ del(3)(p25-pter), and dup(13)(q14.1-q22)/dup(13) (q14.3-qter) [Sargent et al, 1985;Preus et al, 1986;Chu et al, 1994;Czakó et al, 2004]. Recently, new cytogenetic techniques have shown subtelomere aberrations of dup(3pter) and del(9)(q34.3) of the patients with an OTCS phenotype [McGaughran et al, 2000;Yatsenko et al, 2005].…”

Section: Discussionmentioning

confidence: 97%

Opitz trigonocephaly C syndrome in a boy with a de novo balanced reciprocal translocation t(3;18)(q13.13;q12.1)

Chinen

Kaname

Yanagi

et al. 2006

American J of Med Genetics Pt A

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Opitz trigonocephaly C syndrome (OTCS) is a multiple congenital anomaly syndrome characterized by trigonocephaly, mental retardation, a typical facial appearance, redundant skin, joint and limb abnormalities, and visceral anomalies. We describe a patient with the manifestations of OTCS who also had a de novo balanced reciprocal translocation t(3;18)(q13.13q12.1). His phenotype is a mild form with mild developmental delay and no severe visceral anomalies. Our findings suggest the possible existence of a new locus responsible for OTCS either on 3q13.13 or 18q12.1.

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Opitz “C” trigonocephaly‐like syndrome in a patient with terminal deletion of 2p and partial duplication of 17q

Cited by 22 publications

References 12 publications

Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes

Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes

Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23‐pter

Opitz trigonocephaly C syndrome in a boy with a de novo balanced reciprocal translocation t(3;18)(q13.13;q12.1)

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