Distal 6p deletion syndrome: a report of a case with anterior chamber eye anomaly and review of published reports.

Law, Caroline; Fisher, Andrew M.; Temple, I. K.

doi:10.1136/jmg.35.8.685

Cited by 49 publications

(45 citation statements)

References 12 publications

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“…The smallest deletion, estimated to 4.8 -6.7 Mb, could be detected with high-resolution chromosome analysis. That case, earlier reported by Law et al, 5 suggested a more specific distal 6p deletion phenotype, including characteristic facies with hypertelorism, a down-turned tented mouth, anterior chamber malformation of the eye, progressive sensineuronal deafness, cardiac defects and speech and motor delay. Our case with a 2.1 Mb distal deletion confirms this phenotype, and further narrows down the critical region for the genes involved.…”

Section: Discussionmentioning

confidence: 94%

Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment

et al. 2003

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Several cases with microscopically visible, terminal 6p deletions have been described, and a distinct clinical phenotype has emerged, including developmental delay, congenital heart malformations, ocular abnormalities, hearing loss and a characteristic facial appearance. We report a patient with a submicroscopic 6p deletion, detected by subtelomeric screening using fluorescence in situ hybridisation. This girl presented with typical facial dysmorphic features, hearing impairment, malformation of the anterior eye segment, an ASD and severe language impairment. However, her cognitive functions were within the normal range. Detailed FISH analysis with 20 BAC probes covering the distal 6p25 region estimated the size of the terminal deletion to 2.1 Mb, and thus this case narrows down the critical region for the 6p phenotype. The forkhead transcription factor gene FOXC1, involved in a spectrum of anterior eye chamber disorders, is deleted in this patient, together with several characterised and putative genes with yet unknown function.

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Section: Discussionmentioning

confidence: 94%

Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment

et al. 2003

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“…Table II presents a summary of this patient in the context of previous reports of adults and adolescents with distal 6p deletions [Jalal et al, 1989;Palmer et al, 1991;Law et al, 1998;Davies et al, 1999b;Le Caignec et al, 2005]. The patient presented in this report has many typical features of 6p25 deletion syndrome, and appears to have greatest similarity to patient SG in Law et al, 1998 and patient 3 in Mirza et al, 2004, with respect to the phenotype and extent of deletion [Law et al, 1998;Mirza et al, 2004]. A normal karyotype in infancy, normal vision, few other health problems and lack of genetics followup likely contributed to lack of recognition of a diagnosable syndrome until she was specifically assessed as an adult.…”

Section: Discussionmentioning

confidence: 99%

Schizophrenia in an adult with 6p25 deletion syndrome

Caluseriu

Mirza

Ragoussis

et al. 2006

American J of Med Genetics Pt A

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Chromosomal deletions at 6p25-p24 are rare findings in patients with developmental delay. There is limited information about the adult phenotype. We present a 36-year-old patient with schizophrenia, mild mental retardation, progressive hearing deficits, and characteristic facial features. Ocular (Axenfeld-Rieger anomaly) abnormalities were diagnosed in infancy; vision, however, has remained unimpaired. There were no other major congenital anomalies. Brain imaging showed only minor changes. There was no family history of intellectual deficits or psychosis. Karyotyping revealed a 6p25 deletion, and detailed fluorescence in situ hybridization (FISH) analyses using 23 probes confirmed a 6.7 Mb 6p25-pter deletion. The breakpoint is near a possible 6p25-p24 locus for schizophrenia. Psychotic illness may be part of the neurodevelopmental abnormalities and long-term outcome of patients with 6p terminal deletions. Other similarly affected patients likely remain to be diagnosed in adult populations of schizophrenia and/or mental retardation.

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“…The typical facial appearance consists of hypertelorism (present in 93%), downslanting palpebral fissures (69%), and midface hypoplasia with flat, broad nasal bridge (77%). 14,15,[27][28][29][30][31][32][34][35][36] In addition, a prominent forehead (present in 51%), micrognathia (21%) and tented mouth (48%) with various dental anomalies (44%) can be present. 11,[13][14][15][27][28][29][30][31][32][34][35][36] External ears are frequently low set (58%) and are often malformed (39%).…”

Section: Asdmentioning

confidence: 99%

“…14,15,[27][28][29][30][31][32][34][35][36] In addition, a prominent forehead (present in 51%), micrognathia (21%) and tented mouth (48%) with various dental anomalies (44%) can be present. 11,[13][14][15][27][28][29][30][31][32][34][35][36] External ears are frequently low set (58%) and are often malformed (39%). 14,15,[27][28][29][30][31][32][34][35][36] Microcephaly has been described in several cases.…”

Section: Asdmentioning

confidence: 99%

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The 6p25 deletion syndrome: An update on a rare neurocristopathy

Vos

Stegmann

Webers

et al. 2016

Ophthalmic Genetics

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Anterior segment dysgeneses are developmental anomalies of the anterior eye segment that can occur as isolated defects or as part of various syndromes. A subgroup is caused by abnormal embryonic neural crest development. The Axenfeld-Rieger syndrome is an umbrella term for a continuum of anterior segment dysgeneses of neural crest origin, characterized by the presence of the Axenfeld or Rieger eye malformation predisposing for glaucoma. Additionally, other structures of neural crest origin can be variably affected giving rise to a wide spectrum of associated extra-ocular malformations. Key clinical features comprise facial dysmorphism including mid-face and dental hypoplasia, hearing loss, cardiac anomalies, and involuted periumbilical skin. The Axenfeld-Rieger syndrome is genetically heterogeneous and about 16% of cases are caused by heterozygous mutations in FOXC1 at 6p25.3, a transcription factor gene regulating neural crest cell development. There is considerable clinical overlap between the Axenfeld-Rieger syndrome and the 6p25 deletion syndrome, a microdeletion syndrome characterized by heterozygous loss of FOXC1. In both syndromes, FOXC1 haploinsufficiency seems to be pathogenic. Here, we review the clinical features and pathogenesis of the 6p25 deletion syndrome. ARTICLE HISTORY

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Distal 6p deletion syndrome: a report of a case with anterior chamber eye anomaly and review of published reports.

Cited by 49 publications

References 12 publications

Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment

Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment

Schizophrenia in an adult with 6p25 deletion syndrome

The 6p25 deletion syndrome: An update on a rare neurocristopathy

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