UN CASO DI GRAVE RITARDO MENTALE CON CARIOTIPO 46, XX, 9q12+

E. Bonioli; L. Fasce; A. Iester; M. G. Vianello

UN CASO DI GRAVE RITARDO MENTALE CON CARIOTIPO 46, XX, 9q12+

Translated title of the contribution: A case of severe mental retardation with a 46, XX, 9q12+ karyotype

E. Bonioli, L. Fasce, A. Iester, M. G. Vianello

Istituto "Giannina Gaslini"

Research output: Contribution to journal › Article › peer-review

Abstract

A case of mental retardation in a subject with slight signs of deformity is reported. Q band analysis of the karyotype showed extension of band 2 of area 1 of the long arm of chromosome No. 9. Examination of this feature after staining with acridine orange made it clear that this extension was not due to spontaneous DNA denaturation, but was caused by local duplication of chromatin. It is pointed out that such chromatin must be considered as constitutive heterochromatin.

Translated title of the contribution	A case of severe mental retardation with a 46, XX, 9q12+ karyotype
Original language	Italian
Pages (from-to)	874-878
Number of pages	5
Journal	Minerva Pediatrica
Volume	27
Issue number	14
Publication status	Published - 1975

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

Cite this

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title = "UN CASO DI GRAVE RITARDO MENTALE CON CARIOTIPO 46, XX, 9q12+",

abstract = "A case of mental retardation in a subject with slight signs of deformity is reported. Q band analysis of the karyotype showed extension of band 2 of area 1 of the long arm of chromosome No. 9. Examination of this feature after staining with acridine orange made it clear that this extension was not due to spontaneous DNA denaturation, but was caused by local duplication of chromatin. It is pointed out that such chromatin must be considered as constitutive heterochromatin.",

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year = "1975",

language = "Italian",

volume = "27",

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journal = "Minerva Pediatrica",

issn = "0026-4946",

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AU - Bonioli, E.

AU - Fasce, L.

AU - Iester, A.

AU - Vianello, M. G.

PY - 1975

Y1 - 1975

N2 - A case of mental retardation in a subject with slight signs of deformity is reported. Q band analysis of the karyotype showed extension of band 2 of area 1 of the long arm of chromosome No. 9. Examination of this feature after staining with acridine orange made it clear that this extension was not due to spontaneous DNA denaturation, but was caused by local duplication of chromatin. It is pointed out that such chromatin must be considered as constitutive heterochromatin.

AB - A case of mental retardation in a subject with slight signs of deformity is reported. Q band analysis of the karyotype showed extension of band 2 of area 1 of the long arm of chromosome No. 9. Examination of this feature after staining with acridine orange made it clear that this extension was not due to spontaneous DNA denaturation, but was caused by local duplication of chromatin. It is pointed out that such chromatin must be considered as constitutive heterochromatin.

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AN - SCOPUS:0016738374

SN - 0026-4946

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IS - 14

ER -

UN CASO DI GRAVE RITARDO MENTALE CON CARIOTIPO 46, XX, 9q12+

Abstract

ASJC Scopus subject areas

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