Trisomy of 3pter in a patient with apparent C (trigonocephaly) syndrome

McGaughran, Julie; Aftimos, Salim; Oei, Paul

doi:10.1002/1096-8628(20001002)94:4<311::aid-ajmg9>3.0.co;2-u

Cited by 27 publications

(17 citation statements)

References 29 publications

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“…It was postulated that the disorder may represent a defect in the mineralocorticoid receptor, in association with a cytogeneticaly undetectable microdeletion on chromosome 4 [De Koster et al, 1990]. Duplication of 3p was recently identified by subtelomeric FISH probes in a patient with apparent ''C'' trigonocephaly syndrome [McGaughran et al, 2000]. Here, we report on a patient with a terminal deletion of 2p and partial duplication of 17q with clinical findings consistent with the Opitz ''C'' trigonocephaly syndrome.…”

Section: Introductionmentioning

confidence: 64%

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

Czakó¹,

Riegel

Morava

et al. 2004

American J of Med Genetics Pt A

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A boy with trigonocephaly, cleft palate, multiple minor anomalies, flexion deformities of elbows, cryptorchidism, and severe muscular hypotonia had an unbalanced karyotype with duplication of the distal 17q and deletion of the tip of 2p. This was derived from a reciprocal translocation in the father, 46,XY,t(2;17)(p25;q24). The propositus had some findings observed in patients with distal dup(17q), while trigonocephaly not found in these patients may be associated with the terminal deletion of 2p including the locus of SOX11 gene. It is proposed that the major clinical findings of this patient are consistent with the phenotype characteristic of the Opitz “C” trigonocephaly syndrome. © 2004 Wiley‐Liss, Inc.

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Section: Introductionmentioning

confidence: 64%

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

Czakó¹,

Riegel

Morava

et al. 2004

American J of Med Genetics Pt A

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“…9 Mutations in the TACTILE gene have been implicated as a cause of Opitz C syndrome, which has overlapping features with BOS, after one patient was found to have a balanced translocation causing disruption of this gene 10 and a missense mutation was subsequently identified in another. 11 However, the clinical phenotype of these two patients is not typical of BOS and mutations of this gene have been excluded in patients with BOS, including several of those described here.…”

Section: Morbidity and Outcomementioning

confidence: 99%

Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis

et al. 2011

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Bohring-Opitz syndrome (BOS) is a rare congenital disorder of unknown etiology diagnosed on the basis of distinctive clinical features. We suggest diagnostic criteria for this condition, describe ten previously unreported patients, and update the natural history of four previously reported patients. This is the largest series reported to date, providing a unique opportunity to document the key clinical features and course through childhood. Investigations undertaken to try and elucidate the underlying pathogenesis of BOS using array comparative genomic hybridization and tandem mass spectrometry of cholesterol precursors did not show any pathogenic changes responsible.

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“…The syndrome has no chromosomal abnormality defined in the usual karyotype suggesting that this disorder may be a microdeletion syndrome which is cytogenetically detectable only with fluorescence in situ hybridization (FISH) that can show in some cases a genetic alteration by subtelomeric deletion in the long arm of different chromosomes like 3, 9 and 11 [11,12]; our case shows translocation at the chromosome 11 like other previous cases reported [13]. The syndrome has a complex phenotype due to the haploinsufficiency of one or more genes, in some patients was found that the CD96 gene is disrupted, identifying a missense mutation [14]; these mutations may cause a disease by interfering with adhesion and growth of the cells; recently were found some CD96 aberrations caused by genetic translocation [15]; the disorder is a heterogeneous genetic disease which occurs mainly sporadically, although there are some rare cases of familial occurrence that have been described; if the chromosome analysis performed in both parents is normal, this condition indicates that the translocation occurred for the first time by a new mutation.…”

Section: Discussionmentioning

confidence: 94%

Opitz C syndrome: Trigonocephaly, mental retardation and craniofacial dysmorphism

Fierro

Aviña²

2016

Egyptian Journal of Medical Human Genetics

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We describe a 4-year-old female child with a dysmorphic and neurological syndrome of trigonocephaly, mental and psychomotor retardation and dysmorphic facial features. The anomalies of the face were the following: slight upward palpebral fissures, ocular hypertelorism, depressed nasal bridge, hypoplastic nasal root, short nose with anteverted nares; small low set ears, smooth broad philtrum and thin upper lip. The patient had important cerebral anomalies with diffuse alterations in white matter that caused developmental delay with verbal and nonverbal disabilities and severe learning difficulties. This clinical presentation is compatible with the diagnosis of the Opitz C syndrome, a heterogeneous disease of multiple neurological and craniofacial abnormalities. The physical sign more detectable and notorious is the trigonocephaly that is manifested by a prominent metopic suture, but also can be distinguished the other minor facial anomalies that are found in the eyes, nose, mouth and ears that constitute the phenotype of the disorder. The neurological development was altered by the compression of the cerebral frontal lobes with narrowing of this cerebral area, producing hypotonia with muscle weakness, epileptic episodes manifested by seizures, and neurobehavioral and neurocognitive disorders. This syndrome is a very rare genetic disorder with autosomal recessive inheritance trait; our patient had no chromosomal abnormality in the usual karyotype but the fluorescence in situ hybridization (FISH technique) showed a balanced translocation between the chromosomes two and eleven: t(2:11) (q32.2/q24).

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Trisomy of 3pter in a patient with apparent C (trigonocephaly) syndrome

Cited by 27 publications

References 29 publications

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

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

Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis

Opitz C syndrome: Trigonocephaly, mental retardation and craniofacial dysmorphism

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