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Optic atrophy, microcephaly, mental retardation and mosaic variegated aneuploidy: a human mitotic mutation.
Ann Genet. 1994; 37(2):75-7.AG

Abstract

A 12-year-old girl presents with optic atrophy, pale papilla, amblyopia and microcephaly (-3 s.d.) with mild mental retardation and facial dysmorphism. She had mitral insufficiency with mitral prolapse and moderate short stature (-2.5 d.s.). She had normal flash visual evoked potentials, normal electroretinograms and electrooculograms and normal cranial CT scan as well as other lab tests to rule out malformations, tumors or multiple sclerosis. Her lymphocyte karyotype showed a variegated mosaicism with: 2 cells with 49, XX, +mar,+mar,+mar; 21 cells with 48, XX, +mar,+mar; 57 cells, with 47, XX,+mar; 20 cells with 46,XX; while parental karyotypes were normal. This syndrome therefore associates optic atrophy, mental retardation and microcephaly and short stature with chromosomal instability in the form of variegated mosaicism.

Authors+Show Affiliations

Bitoun P
Service de Pédiatrie-Génétique, Hôpital Jean Verdier, Bondy, France.
Martin-Pont B
No affiliation info available
Tamboise E
No affiliation info available
Gaudelus J
No affiliation info available

MeSH

Abnormalities, MultipleAneuploidyChildDwarfismFemaleGenetic MarkersHumansIntellectual DisabilityKaryotypingMicrocephalyMitosisMitral Valve ProlapseMosaicismMutationOptic Atrophy

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

7985982

Citation

Bitoun, P, et al. "Optic Atrophy, Microcephaly, Mental Retardation and Mosaic Variegated Aneuploidy: a Human Mitotic Mutation." Annales De Genetique, vol. 37, no. 2, 1994, pp. 75-7.
Bitoun P, Martin-Pont B, Tamboise E, et al. Optic atrophy, microcephaly, mental retardation and mosaic variegated aneuploidy: a human mitotic mutation. Ann Genet. 1994;37(2):75-7.
Bitoun, P., Martin-Pont, B., Tamboise, E., & Gaudelus, J. (1994). Optic atrophy, microcephaly, mental retardation and mosaic variegated aneuploidy: a human mitotic mutation. Annales De Genetique, 37(2), 75-7.
Bitoun P, et al. Optic Atrophy, Microcephaly, Mental Retardation and Mosaic Variegated Aneuploidy: a Human Mitotic Mutation. Ann Genet. 1994;37(2):75-7. PubMed PMID: 7985982.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Optic atrophy, microcephaly, mental retardation and mosaic variegated aneuploidy: a human mitotic mutation. AU - Bitoun,P, AU - Martin-Pont,B, AU - Tamboise,E, AU - Gaudelus,J, PY - 1994/1/1/pubmed PY - 1994/1/1/medline PY - 1994/1/1/entrez SP - 75 EP - 7 JF - Annales de genetique JO - Ann Genet VL - 37 IS - 2 N2 - A 12-year-old girl presents with optic atrophy, pale papilla, amblyopia and microcephaly (-3 s.d.) with mild mental retardation and facial dysmorphism. She had mitral insufficiency with mitral prolapse and moderate short stature (-2.5 d.s.). She had normal flash visual evoked potentials, normal electroretinograms and electrooculograms and normal cranial CT scan as well as other lab tests to rule out malformations, tumors or multiple sclerosis. Her lymphocyte karyotype showed a variegated mosaicism with: 2 cells with 49, XX, +mar,+mar,+mar; 21 cells with 48, XX, +mar,+mar; 57 cells, with 47, XX,+mar; 20 cells with 46,XX; while parental karyotypes were normal. This syndrome therefore associates optic atrophy, mental retardation and microcephaly and short stature with chromosomal instability in the form of variegated mosaicism. SN - 0003-3995 UR - https://www.unboundmedicine.com/medline/citation/7985982/Optic_atrophy_microcephaly_mental_retardation_and_mosaic_variegated_aneuploidy:_a_human_mitotic_mutation_ L2 - http://www.diseaseinfosearch.org/result/4735 DB - PRIME DP - Unbound Medicine ER -