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

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

Research output: Contribution to journalArticle

6 Citations (Scopus)

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 languageEnglish
Pages (from-to)129-131
Number of pages3
JournalOphthalmic Genetics
Volume15
Issue number3-4
DOIs
Publication statusPublished - 1994

Fingerprint

Chromosomes, Human, Pair 2
Branchial Region
Genes
Head
Phenotype
Gene Expression

Keywords

  • Homeobox
  • Homeotic gene
  • Infant
  • Neural crest
  • Nystagmus
  • Translocation

ASJC Scopus subject areas

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

Cite this

Nucci, P., Manitto, M. P., Faiella, A., Boncinelli, E., & Brancato, R. (1994). Balanced translocation (t 2q; 10p) and ocular anomalies. A possible HOX gene defect. Ophthalmic Genetics, 15(3-4), 129-131. https://doi.org/10.3109/13816819409057839

Balanced translocation (t 2q; 10p) and ocular anomalies. A possible HOX gene defect. / Nucci, Paolo; Manitto, Maria Pia; Faiella, Antonio; Boncinelli, Edoardo; Brancato, Rosario.

In: Ophthalmic Genetics, Vol. 15, No. 3-4, 1994, p. 129-131.

Research output: Contribution to journalArticle

Nucci, P, Manitto, MP, Faiella, A, Boncinelli, E & Brancato, R 1994, 'Balanced translocation (t 2q; 10p) and ocular anomalies. A possible HOX gene defect', Ophthalmic Genetics, vol. 15, no. 3-4, pp. 129-131. https://doi.org/10.3109/13816819409057839
Nucci, Paolo ; Manitto, Maria Pia ; Faiella, Antonio ; Boncinelli, Edoardo ; Brancato, Rosario. / Balanced translocation (t 2q; 10p) and ocular anomalies. A possible HOX gene defect. In: Ophthalmic Genetics. 1994 ; Vol. 15, No. 3-4. pp. 129-131.
@article{8bb5625e9d37491fbfda113d383d9ac8,
title = "Balanced translocation (t 2q; 10p) and ocular anomalies. A possible HOX gene defect",
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.",
keywords = "Homeobox, Homeotic gene, Infant, Neural crest, Nystagmus, Translocation",
author = "Paolo Nucci and Manitto, {Maria Pia} and Antonio Faiella and Edoardo Boncinelli and Rosario Brancato",
year = "1994",
doi = "10.3109/13816819409057839",
language = "English",
volume = "15",
pages = "129--131",
journal = "Ophthalmic Genetics",
issn = "0167-6784",
publisher = "Informa Healthcare",
number = "3-4",

}

TY - JOUR

T1 - Balanced translocation (t 2q; 10p) and ocular anomalies. A possible HOX gene defect

AU - Nucci, Paolo

AU - Manitto, Maria Pia

AU - Faiella, Antonio

AU - Boncinelli, Edoardo

AU - Brancato, Rosario

PY - 1994

Y1 - 1994

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

UR - http://www.scopus.com/inward/record.url?scp=0028670234&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0028670234&partnerID=8YFLogxK

U2 - 10.3109/13816819409057839

DO - 10.3109/13816819409057839

M3 - Article

C2 - 7749666

AN - SCOPUS:0028670234

VL - 15

SP - 129

EP - 131

JO - Ophthalmic Genetics

JF - Ophthalmic Genetics

SN - 0167-6784

IS - 3-4

ER -