Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia

Pettenati, Mark J.; Weaver, Richard G.; Burton, Barbara K.

doi:10.1002/ajmg.1320340220

Cited by 15 publications

(4 citation statements)

References 11 publications

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“…Isolated aniridia can arise sporadically or segregate in an autosomal dominant fashion. The location of the gene was first suggested by the association of WAGR patients with cytogenetically visible interstitial deletions involving band lip 132 and by the cosegregation of dominant aniridia with structural chromosome rearrangements involving 11p13 [3][4][5]. …”

mentioning

confidence: 99%

FISH studies in a patient with sporadic aniridia and t(7;11) (q31.2;p13).

Crolla

Cross

Atkey

et al. 1996

Journal of Medical Genetics

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mentioning

confidence: 99%

FISH studies in a patient with sporadic aniridia and t(7;11) (q31.2;p13).

Crolla

Cross

Atkey

et al. 1996

Journal of Medical Genetics

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“…Radiologically, brain CT or better magnetic resonance imaging (MRI) shows cerebellar hypoplasia or atrophy prevailing on the vermis [ 7 , 10 , 12 ]. Other cerebral white matter and cerebellar abnormalities may exist [ 7 ].…”

Section: Discussionmentioning

confidence: 99%

“…In addition to iridocerebellar anomalies, a number of other osteoarticular, vascular and atrial malformations have been described in GS: C1-C2 vertebral fusion [ 12 ] or C2-C3 associated with odontoid hypoplasia [ 7 ]; pulmonary artery stenosis [ 2 , 12 ], and helix hypoplasia [ 2 ].…”

Section: Discussionmentioning

confidence: 99%

Gillespie syndrome: An atypical form and review of the literature

Nabih

Hamdani

Maaloum

et al. 2022

Annals of Medicine &Amp; Surgery

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Introduction Gillespie syndrome (GS) is a rare genetic disorder that combines ocular and cerebral defects. It was first described in 1965, by Frederick D. Gillespie. He reported a triad of congenital aniridia, cerebellar ataxia and mental retardation in a 22-year-old woman and her 19-year-old brother. Its etiology is still unknown. To date, less than 30 patients have been reported in the literature. Observation We report the case of a 2 years old child, born of a consanguineous marriage. At the age of 8 months, the parents consulted for a delay in psychomotor acquisition for which the MRI performed showed a vermian hypoplasia. It was only at the age of 2 years, following a contusive trauma of the left eye that a partial aniridia was objectified on both eyes associated with a lens coloboma on the left eye. In view of these clinico-radiological data, the diagnosis of Gillespie syndrome was retained. Discussion Gillespie syndrome is a genetic disease. It combines ocular and neurological abnormalities. It was first described in 1965 by Gillespie. The ocular manifestations of Gillespie syndrome mainly concern the iris. Aniridia is always present with, in most cases, a scalloped appearance of the pupillary margin. It can be accompanied with additional ocular findings such as foveal, optic nerve hypoplasia, retinal hypopigmentation, and/or pigmentary macular changes leading to reduced visual acuity. In addition to ocular abnormalities, the Gillespie syndrome. (GS) includes neurological deficiencies, particularly axial hypotonia, lack of coordination, dysarthria and static and kinetic ataxia. Conclusion The diagnosis of Gillespie Syndrome should be evoked in any hypotonic child presenting with bilateral but partial aniridia. Prognosis depends on the proper management and anticipation of ocular and mental symptoms and disabilities.

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“…Some malformations may be caused by gene loss in deletions, while the number of such defects is not large: ectrodactyly in de1(7)(q21e3), aniridia in del(ll)(pl3) and some others [Pettenati et al, 1989;Roberts et al, 19911. Other malformations can be a direct result of duplications of certain genes, such an origin of disease demonstrated recently by Lupski et al [19921. Some abnormalities may be related to a nonspecific disturbance of cell division, typical of autosomal imbalance.…”

Section: Introductionmentioning

confidence: 99%

Autosomal imbalance syndromes: Genetic interactions and the origin of congenital malformations in aneuploidy syndromes

Lurie

1993

Am. J. Med. Genet.

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In some autosomal imbalance syndromes an additional imbalance interferes with the occurrence of the anomalies typical of the syndrome itself. For example, polydactyly was found in patients with "pure" del(3p) more frequently (11/23) than in patients where these deletions were associated with different partial trisomies (2/28). The opposite situation was shown in del(7q) syndrome where various defects of the holoprosencephalic group were found to be rarer in patients with "pure" deletions, than in cases with simultaneous occurrence of various partial trisomies. It suggests the importance of gene interaction in determining the phenotypic picture of autosomal imbalance syndromes.

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Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia

Cited by 15 publications

References 11 publications

FISH studies in a patient with sporadic aniridia and t(7;11) (q31.2;p13).

FISH studies in a patient with sporadic aniridia and t(7;11) (q31.2;p13).

Gillespie syndrome: An atypical form and review of the literature

Autosomal imbalance syndromes: Genetic interactions and the origin of congenital malformations in aneuploidy syndromes

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