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Aarskog syndrome in a Danish family: an illustration of the need for dysmorphology in paediatrics.

https://arctichealth.org/en/permalink/ahliterature38524
Source
Clin Genet. 1988 Apr;33(4):315-7
Publication Type
Article
Date
Apr-1988
Author
K B Nielsen
Author Affiliation
Department of Paediatrics, Gentofte Hospital, University of Copenhagen, Denmark.
Source
Clin Genet. 1988 Apr;33(4):315-7
Date
Apr-1988
Language
English
Publication Type
Article
Keywords
Abnormalities, Multiple - genetics
Body Height
Child, Preschool
Denmark
Genes, Recessive
Humans
Linkage (Genetics)
Male
Syndrome
X Chromosome
Abstract
The first Danish case of Aarskog syndrome is reported. The child had attended several specialized out-patient clinics before the diagnosis was suggested. This underlines the need for dysmorphology in paediatrics.
PubMed ID
3359689 View in PubMed
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Acro-renal-ocular syndrome: autosomal dominant thumb hypoplasia, renal ectopia, and eye defect.

https://arctichealth.org/en/permalink/ahliterature240673
Source
Am J Med Genet. 1984 Apr;17(4):753-62
Publication Type
Article
Date
Apr-1984
Author
F. Halal
M. Homsy
G. Perreault
Source
Am J Med Genet. 1984 Apr;17(4):753-62
Date
Apr-1984
Language
English
Publication Type
Article
Keywords
Abnormalities, Multiple - genetics
Adolescent
Adult
Coloboma - genetics
Dermatoglyphics
Eye Abnormalities
Female
Fingers - abnormalities
Genes, Dominant
Humans
Infant
Kidney - abnormalities
Male
Middle Aged
Nails, Malformed
Pedigree
Quebec
Syndrome
Thumb - abnormalities
Toes - abnormalities
Abstract
Seven individuals from 3 generations of a French-Canadian family had various combinations of acral, renal, and ocular defects. Acral anomalies varied from mild hypoplastic distal portion of the thumbs, with limited motion at IP joint, to severe thumb hypoplasia and preaxial polydactyly. Renal anomalies varied from mild malrotation to crossed renal ectopia without fusion; other urinary tract anomalies were vesicoureteral reflux and bladder diverticula. Ocular manifestations varied from complete eye coloboma, coloboma of the optic nerve, ptosis, and Duane anomaly. The syndrome seems to be an autosomal dominant trait with high penetrance and variable expressivity. Dermatoglyphics were abnormal; in addition to a triradius t' present in all, some also had various combinations of high TRC, thenar exit of A line, and rare patterns in interdigital area IV.
PubMed ID
6426304 View in PubMed
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[An analysis of the asynchronous condensation of homologous chromosomes in patients with chromosomal anomalies and their parents]

https://arctichealth.org/en/permalink/ahliterature33760
Source
Tsitol Genet. 1998 Jan-Feb;32(1):83-9
Publication Type
Article
Author
O O Vaniurikhina
Source
Tsitol Genet. 1998 Jan-Feb;32(1):83-9
Language
Ukrainian
Publication Type
Article
Keywords
Abnormalities, Multiple - genetics
Adult
Child
Chromosome Aberrations - genetics
Chromosome Banding
Chromosome Disorders
Comparative Study
English Abstract
Humans
Karyotyping
Lymphocytes - cytology
Metaphase
Abstract
The aim of investigation was to study asynchronous condensation of differentially segmented homologous chromosomes in lymphocytes of peripheral blood, as a variant of karyotype instability in families which has a children with multiple malformations and cytogenetic defects. Automatically calculated the correlation between every pair of homologous chromosomes. After that we made the correlation diagrams for all patients. Our study showed that children with multiple malformations and cytogenetic defects and their parents has low correlation of banding structure between homologs. The length and segmentation one of homologs in every pair is conform to more early condensation stage. We made a conclusion about presence of asynchronous condensation homologous chromosome. As a control we perform the same investigation of 6 families with healthy children. We found high correlation between homologous chromosomes, namely synchronous condensation homologous pairs in all patients of this group. Asynchronous condensation was found only in all members of families which has a child with cytogenetic defect.
PubMed ID
9695257 View in PubMed
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Angioma serpiginosum with oesophageal papillomatosis is an X-linked dominant condition that maps to Xp11.3-Xq12.

https://arctichealth.org/en/permalink/ahliterature78545
Source
Eur J Hum Genet. 2007 May;15(5):543-7
Publication Type
Article
Date
May-2007
Author
Blinkenberg Ellen O
Brendehaug Atle
Sandvik Arne K
Vatne Oystein
Hennekam Raoul C M
Houge Gunnar
Author Affiliation
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.
Source
Eur J Hum Genet. 2007 May;15(5):543-7
Date
May-2007
Language
English
Publication Type
Article
Keywords
Abnormalities, Multiple - genetics - pathology
Centromere - genetics
Chromosome Mapping
Chromosomes, Human, Pair 11 - genetics
Chromosomes, Human, X - genetics
Esophageal Neoplasms - genetics
Female
Focal Dermal Hypoplasia - genetics - pathology
Genes, Dominant
Genetic markers
Hemangioma - genetics - pathology
Humans
Linkage (Genetics)
Male
Norway
Papilloma - genetics
Pedigree
Abstract
We report on a four-generation family with localized subepidermal telangiectasias following Blaschko's lines (angioma serpiginosum). The vascular streaks are present at birth and progress slowly thereafter. In several family members papillomatosis of the entire oesophagus was found to be part of the condition. Mild nail and hair dystrophy added to the resemblance of Goltz-Gorlin syndrome (focal dermal hypoplasia), suggesting that the present condition could be a mild variant. All affected family members are females, there is no increased miscarriage rate, and X-inactivation in affected females is highly skewed, compatible with X-linked dominant inheritance with very early in utero lethality in males. In the family, 11 informative meioses were available to study the segregation of X-chromosome markers. Significant linkage (LOD score 3.31) was found to a region flanked by markers DXS8026 and DXS106 (44-67 Mb from Xpter) that includes the centromere.
PubMed ID
17342156 View in PubMed
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An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities.

https://arctichealth.org/en/permalink/ahliterature95191
Source
Eur J Med Genet. 2009 Sep-Oct;52(5):358-62
Publication Type
Article
Author
Bremer Anna
Schoumans Jacqueline
Nordenskjöld Magnus
Anderlid Britt-Marie
Giacobini Maibritt
Author Affiliation
Department of Molecular Medicine and Surgery, Karolinska University Hospital, Stockholm, Sweden.
Source
Eur J Med Genet. 2009 Sep-Oct;52(5):358-62
Language
English
Publication Type
Article
Keywords
Abnormalities, Multiple - genetics
Case-Control Studies
Child, Preschool
Chromosome Banding
Chromosome Breakage
Chromosome Deletion
Chromosomes, Human, Pair 6
Comparative Genomic Hybridization
DNA - genetics
Developmental Disabilities - genetics
Eye
Female
Heart Defects, Congenital - genetics
Humans
In Situ Hybridization, Fluorescence
Metaphase
Physical Chromosome Mapping
Reference Standards
Sweden
Abstract
Seven cases with an interstitial deletion of the short arm of chromosome 6 involving the 6p22 region have previously been reported. The clinical phenotype of these cases includes developmental delay, brain-, heart-, and kidney defects, eye abnormalities, short neck, craniofacial malformations, hypotonia, as well as clinodactyly or syndactyly. Here, we report a patient with a 7.1Mb interstitial deletion of chromosome band 6p22.3, detected by genome-wide screening array CGH. The patient is a 4-year-old girl with developmental delay and dysmorphic features including eye abnormalities, short neck, and a ventricular septum defect. The deleted region at 6p22.3 in our patient overlaps with six out of the seven previously reported cases with a 6p22-24 interstitial deletion. This enabled us to further narrow down the critical region for the 6p22 deletion phenotype to 2.2Mb. Twelve genes are mapped to the overlapping deleted region, among them the gene encoding the ataxin-1 protein, the ATXN1 gene. Mice with homozygous deletions in ATXN1 are phenotypically normal but show cognitive delay. Haploinsufficiency of ATXN1 may therefore contribute to the learning difficulties observed in the patients harboring a 6p22 deletion.
PubMed ID
19576304 View in PubMed
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Association and Mutation Analyses of the IRF6 Gene in Families With Nonsyndromic and Syndromic Cleft Lip and/or Cleft Palate.

https://arctichealth.org/en/permalink/ahliterature288371
Source
Cleft Palate Craniofac J. 2014 Jan;51(1):49-55
Publication Type
Article
Date
Jan-2014
Author
M. Pegelow
H. Koillinen
M. Magnusson
I. Fransson
P. Unneberg
J. Kere
A. Karsten
M. Peyrard-Janvid
Source
Cleft Palate Craniofac J. 2014 Jan;51(1):49-55
Date
Jan-2014
Language
English
Publication Type
Article
Keywords
Abnormalities, Multiple - genetics
Alleles
Cleft Lip - genetics
Cleft Palate - genetics
Cysts - genetics
DNA Mutational Analysis
Eye Abnormalities - genetics
Female
Fingers - abnormalities
Genotype
Haplotypes
Humans
Interferon Regulatory Factors - genetics
Knee Joint - abnormalities
Lip - abnormalities
Lower Extremity Deformities, Congenital - genetics
Male
Pedigree
Phenotype
Polymorphism, Single Nucleotide
Sweden
Syndactyly - genetics
Urogenital Abnormalities - genetics
Abstract
(1) To detect interferon regulatory factor 6 gene (IRF6) mutations in newly recruited Van der Woude syndrome (VWS) and popliteal pterygium syndrome (PPS) families. (2) To test for association, in nonsyndromic cleft lip and/or cleft palate (NSCL/P) and in VWS/PPS families, the single nucleotide polymorphism (SNP) rs642961, from the IRF6 enhancer AP-2a region, alone or as haplotype with rs2235371, a coding SNP (Val274Ile).
IRF6 mutation screening was performed by direct sequencing and genotyping of rs642961 and rs2235371 by TaqMan technology.
Seventy-one Swedish NSCL/P families, 24 Finnish cleft palate (CP) families, and 24 VWS/PPS families (seven newly recruited) were studied.
Allelic and genotypic frequencies in each phenotype were compared to those of the controls, and no significant difference could be observed. IRF6 gene mutation was detected in six of the seven new VWS/PPS families. Association analysis of the entire VWS/PPS sample set revealed the A allele from rs642961 to be a risk allele. Significant association was detected in the Swedish CP subset of our NSCL/P collection where the G-C haplotype for rs642961-rs2235371 were at risk (P = .013).
Our results do not support the previously reported association between the A allele of rs642961 and the NSCL phenotype. However, in the VWS/PPS families, the A allele was a risk allele and was, in a large majority (>80%), transmitted on the same chromosome as the IRF6 mutation.
PubMed ID
23394314 View in PubMed
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A case of otocephaly with anencephaly and meningomyelocele.

https://arctichealth.org/en/permalink/ahliterature100231
Source
Genet Couns. 2010;21(3):325-8
Publication Type
Article
Date
2010
Author
T. Tos
S. Ceylaner
S. Senel
S. Aktas
Y. Alp
Author Affiliation
Department of Genetics, Dr. Sami Ulus Maternity and Children's Hospital, Ankara, Turkey. tulaytos@hotmail.com
Source
Genet Couns. 2010;21(3):325-8
Date
2010
Language
English
Publication Type
Article
Keywords
Abnormalities, Multiple - genetics - pathology
Abortion, Spontaneous - pathology
Adult
Anencephaly - genetics - pathology
Branchial Region - abnormalities - pathology
Consanguinity
Ear, External - abnormalities - pathology
Female
Humans
Male
Meningomyelocele - genetics - pathology
Mouth Abnormalities - genetics - pathology
Pregnancy
Pregnancy Trimester, First
Turkey
Abstract
A case of otocephaly with anencephaly and meningomyelocele: Otocephaly is a rare lethal syndrome with microstomia, aglossia, agnathia, and synotia as major clinical features due to arrest in development of the first branchial arch. Some associated anomalies may be present as cyclopia, holoprosencephaly, cerebellar hypoplasia, situs inversus, and other visceral anomalies. We describe a case of fetus, spontaneously aborted in the 14th week of gestation with otocephaly complex (agnathia, synotia, microstomia) and associated anencephaly and meningomyelocele.
PubMed ID
20964124 View in PubMed
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Chromosome 22q11 deletion and other chromosome aberrations in cases with cleft palate, congenital heart defects and/or mental disability. A survey based on the Danish Facial Cleft Register.

https://arctichealth.org/en/permalink/ahliterature34658
Source
Clin Genet. 1996 Sep;50(3):116-20
Publication Type
Article
Date
Sep-1996
Author
K. Brøndum-Nielsen
K. Christensen
Author Affiliation
Department of Medical Genetics, John F Kennedy Institute, Glostrup, Denmark.
Source
Clin Genet. 1996 Sep;50(3):116-20
Date
Sep-1996
Language
English
Publication Type
Article
Keywords
Abnormalities, Multiple - genetics
Adolescent
Adult
Child
Chromosome Aberrations
Chromosome Deletion
Chromosomes, Human, Pair 21
Cleft Palate - genetics
Denmark
Heart Defects, Congenital - genetics
Humans
In Situ Hybridization, Fluorescence
Mental Retardation - genetics
Registries
Research Support, Non-U.S. Gov't
Syndrome
Abstract
Velo-cardio-facial syndrome (VCFS) is a syndrome associated with haplo-insufficiency of genes at chromosome 22q11. The syndrome has a broad phenotypic spectrum including multiple anomalies, of which cleft palate (CP), congenital heart defects (CHD), and mental disabilities are among the most common. Hence, a high prevalence of 22q11 deletions should be expected among cases with a combination of CP and CHD or/and mental disability. In Denmark a population-based database comprising 2301 CP cases born 1936-1987 has been established. Cases with CP and CHD or/and mental disabilities were selected from the register. By using public registers 39 living cases were identified, among whom 15 agreed to blood sampling and testing for 22q11 deletion using FISH (fluorescence in situ hybridization) analysis. Four deletion cases were identified. Using a polymorphic microsatellite marker (D22S264), two cases were shown to be de novo deletions of maternal origin. The parental origin in the two other cases could not be determined. The patients ranged in age from 7 to 40 years. All patients had mental impairment, and one also showed signs of paranoid psychosis. Two cases had CHD. Furthermore, five cases previously karyotyped had other chromosomal aberrations. The study shows that facial cleft registers are an obvious source for identifying a group of patients with a high risk of VCFS and chromosome 22q11 microdeletion. These individuals as well as their families can benefit from genetic counselling.
PubMed ID
8946108 View in PubMed
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63 records – page 1 of 7.