Arch Neurol. 1977 Jul;34(7):437-42.

Three-generation pedigree of a Möbius syndrome variant with chromosome translocation.

Abstract

We report the clinical and cytogenetic data on seven members of a family, spaning three generations, who showed congenital facial diplegia and finger contractures. Each affected member showed an identical chromosome abnormality, reciprocal translocation between chromosome 1 and 13. The concurrence of the clinical and cytogenetic defect in this family suggests a direct and possibly etiologic relationship.

PMID:: 880069; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms

Publication Types

Case Reports

MeSH Terms

LinkOut - more resources

Full Text Sources

Other Literature Sources

Labome Researcher Resource - ExactAntigen/Labome

Supplemental Content

Icon for Silverchair Information Systems

Save items

Related citations in PubMed

Review Möbius-like syndrome associated with a 1;2 chromosome translocation. [Clin Genet. 1997]
Review Möbius-like syndrome associated with a 1;2 chromosome translocation.
Nishikawa M, Ichiyama T, Hayashi T, Furukawa S. Clin Genet. 1997 Feb; 51(2):122-3.
A second gene for autosomal dominant Möbius syndrome is localized to chromosome 10q, in a Dutch family. [Am J Hum Genet. 1999]
A second gene for autosomal dominant Möbius syndrome is localized to chromosome 10q, in a Dutch family.
Verzijl HT, van den Helm B, Veldman B, Hamel BC, Kuyt LP, Padberg GW, Kremer H. Am J Hum Genet. 1999 Sep; 65(3):752-6.
[Clinical case of tandem translocation between chromosomes 13 and 15]. [Tsitol Genet. 1985]
[Clinical case of tandem translocation between chromosomes 13 and 15].
Badalian LO, Arkhipov BA, Malygina NA, Patrukhin AS, Lysov VL. Tsitol Genet. 1985 Jul-Aug; 19(4):304-8.
A familial F/G translocation [t(p-; 22q+)] observed in three generations. [Clin Genet. 1975]
A familial F/G translocation [t(p-; 22q+)] observed in three generations.
Cohen MM, Davidson RG, Brown JA. Clin Genet. 1975 Feb; 7(2):120-7.
Review Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children. [Am J Med Genet. 1995]
Review Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children.
Galán-Gómez E, Cardesa-García JJ, Campo-Sampedro FM, Salamanca-Maesso C, Martínez-Frías ML, Frías JL. Am J Med Genet. 1995 Nov 20; 59(3):276-82.

See reviews... See all...

Cited by 11 PubMed Central articles

Review A developmental and genetic classification for midbrain-hindbrain malformations. [Brain. 2009]
Review A developmental and genetic classification for midbrain-hindbrain malformations.
Barkovich AJ, Millen KJ, Dobyns WB. Brain. 2009 Dec; 132(Pt 12):3199-230.
Congenital abnormalities of cranial nerve development: overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movements. [Trans Am Ophthalmol Soc. 2004]
Congenital abnormalities of cranial nerve development: overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movements.
Traboulsi EI. Trans Am Ophthalmol Soc. 2004; 102:373-89.
Review The genetics of strabismus. [J Med Genet. 2004]
Review The genetics of strabismus.
Michaelides M, Moore AT. J Med Genet. 2004 Sep; 41(9):641-6.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene
Gene records that cite the current articles. Citations in Gene are added manually by NCBI or imported from outside public resources.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
HomoloGene
HomoloGene clusters of homologous genes and sequences that cite the current articles. These are references on the Gene and sequence records in the HomoloGene entry.
Nucleotide
Primary database (GenBank) nucleotide records reported in the current articles as well as Reference Sequences (RefSeqs) that include the articles as references.
Nucleotide (RefSeq)
NCBI nucleotide Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (RefSeq)
NCBI protein Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Taxonomy via GenBank
Taxonomy records associated with the current articles through taxonomic information on related molecular database records (Nucleotide, Protein, Gene, SNP, Structure).
UniGene
UniGene clusters of expressed sequences that are associated with the current articles through references on the clustered sequence records and related Gene records.
Protein
Protein translation features of primary database (GenBank) nucleotide records reported in the current articles as well as Reference Sequences (RefSeqs) that include the articles as references.
GEO Profiles
Gene Expression Omnibus (GEO) Profiles of molecular abundance data. The current articles are references on the Gene record associated with the GEO profile.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Three-generation pedigree of a Möbius syndrome variant with chromosome transloca...
Three-generation pedigree of a Möbius syndrome variant with chromosome translocation.
Arch Neurol. 1977 Jul ;34(7):437-42.

PubMed
Separation of activation and pattern in grooming development of weaver mice.
Separation of activation and pattern in grooming development of weaver mice.
Behav Brain Res. 1996 Feb ;75(1-2):49-58.

PubMed
Bodyweight change as an adverse effect of drug treatment. Mechanisms and managem...
Bodyweight change as an adverse effect of drug treatment. Mechanisms and management.
Drug Saf. 1996 May ;14(5):329-42.

PubMed
Three-dimensional kinematics of wheelchair propulsion.
Three-dimensional kinematics of wheelchair propulsion.
IEEE Trans Rehabil Eng. 1996 Sep ;4(3):152-60.

PubMed
The offspring of schizophrenics. II. Perinatal factors and IQ.
The offspring of schizophrenics. II. Perinatal factors and IQ.
Arch Gen Psychiatry. 1977 Jul ;34(7):789-99.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: