Balanced translocation (t 2q; 10p) and ocular anomalies. A possible HOX gene defect

Paolo Nucci; Maria Pia Manitto; Antonio Faiella; Edoardo Boncinelli; Rosario Brancato

doi:10.3109/13816819409057839

Balanced translocation (t 2q; 10p) and ocular anomalies. A possible HOX gene defect

Paolo Nucci, Maria Pia Manitto, Antonio Faiella, Edoardo Boncinelli, Rosario Brancato

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Abstract

The authors report a child with a phenotype typical of a first branchial arch defect. The patient has a balanced translocation involving chromosome 2. They propose a defect that has occurred during the translocation in a gene mapped to chromosome 2 and belonging to the HOXD family. HOX gene defects can perturb the expression of other genes important for head development.

Original language	English
Pages (from-to)	129-131
Number of pages	3
Journal	Ophthalmic Genetics
Volume	15
Issue number	3-4
DOIs	https://doi.org/10.3109/13816819409057839
Publication status	Published - 1994

Keywords

Homeobox
Homeotic gene
Infant
Neural crest
Nystagmus
Translocation

ASJC Scopus subject areas

Ophthalmology
Pediatrics, Perinatology, and Child Health
Genetics(clinical)

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10.3109/13816819409057839

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abstract = "The authors report a child with a phenotype typical of a first branchial arch defect. The patient has a balanced translocation involving chromosome 2. They propose a defect that has occurred during the translocation in a gene mapped to chromosome 2 and belonging to the HOXD family. HOX gene defects can perturb the expression of other genes important for head development.",

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AU - Manitto, Maria Pia

AU - Faiella, Antonio

AU - Boncinelli, Edoardo

AU - Brancato, Rosario

PY - 1994

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N2 - The authors report a child with a phenotype typical of a first branchial arch defect. The patient has a balanced translocation involving chromosome 2. They propose a defect that has occurred during the translocation in a gene mapped to chromosome 2 and belonging to the HOXD family. HOX gene defects can perturb the expression of other genes important for head development.

AB - The authors report a child with a phenotype typical of a first branchial arch defect. The patient has a balanced translocation involving chromosome 2. They propose a defect that has occurred during the translocation in a gene mapped to chromosome 2 and belonging to the HOXD family. HOX gene defects can perturb the expression of other genes important for head development.

KW - Homeobox

KW - Homeotic gene

KW - Infant

KW - Neural crest

KW - Nystagmus

KW - Translocation

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Balanced translocation (t 2q; 10p) and ocular anomalies. A possible HOX gene defect

Abstract

Keywords

ASJC Scopus subject areas

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