| 14q(22) deletion in a familial case of anophthalmia with polydactyly |
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| Margareta Mikkelsen |
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European Society of Human Genetics (ESHG); Danish, Danes, Denmark, German, Munich |
| Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia |
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| Attitudes and distress levels in women at risk to carry a <i>BRCA1/BRCA2</i> gene mutation who decline genetic testing |
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| Association study of autistic disorder and chromosome 16p |
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| Methylenetetrahydrofolate reductase (MTHFR): incidence of mutations C677T and A1298C in Brazilian population and its correlation with plasma homocysteine levels in spina bifida |
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✓ |
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| Twin brothers with MIDAS syndrome and XX karyotype |
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| A Japanese girl with mental retardation, severe microretrognathia, and brachydactyly: Another case of the Gurrieri syndrome |
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| Aural atresia and microtia in Kabuki syndrome |
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| Homozygous inactivation of <i>NF1</i> gene in a patient with familial NF1 and disseminated neuroblastoma |
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| Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy |
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| van den Ende–Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: Clinical delineation and recurrence in brothers |
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Hispanic |
| Ten years follow up of a boy with a complex chromosomal rearrangement: Going from a > 5 to 15‐breakpoint CCR |
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| Interstitial deletion of the short arm of chromosome 1: Attempt to establish a clinical phenotype (46,XX,del (1)(p22p32)) |
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| Poland anomaly—report of an unusual family |
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| Y chromosomal polysomy: A unique case of 49,XYYYY in amniotic fluid cells |
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| Effects of<i>MECP2</i>mutation type, location and X‐inactivation in modulating Rett syndrome phenotype |
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| Relationship of deficits of <i>FMR1</i> gene specific protein with physical phenotype of fragile X males and females in pedigrees: A new perspective |
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| Another explanation for familial Cornelia de Lange syndrome |
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| Prenatal diagnosis of a trisomy 7/maternal uniparental heterodisomy 7 mosaic fetus |
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| Leukodystrophy associated with oligodontia in a large inbred family: Fortuitous association or new entity? |
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| X‐chromosome inactivation (XCI) patterns in placental tissues of a paternally derived bal t(X;20) case |
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| Complex chromosomal rearrangement and associated counseling issues in a family with Pelizaeus‐Merzbacher disease |
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| Novel missense mutations and a 288‐bp exonic insertion in <i>PAX9</i> in families with autosomal dominant hypodontia |
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| Bilateral Poland anomaly: Does it exist? |
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| Syndromic form of X‐linked mental retardation with marked hypotonia in early life, severe mental handicap, and difficult adult behavior maps to Xp22 |
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| Prenatal diagnosis of mosaic tetrasomy 10p associated with megacisterna magna, echogenic focus of left ventricle, umbilical cord cysts and distal arthrogryposis |
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| Novel perforin mutation in a patient with hemophagocytic lymphohistiocytosis and CD45 abnormal splicing |
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| Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region |
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| FISH and cytogenetic characterization of a terminal chromosome 1q deletion: Clinical case report and phenotypic implications |
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| Prenatal diagnosis of isolated femoral bent bone skeletal dysplasia: Problems in differential diagnosis and genetic counseling |
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| September 11, 3 PM |
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| Generalized skeletal dysplasia in mother and daughter with 22q11 deletion syndrome |
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| Screening for cryptic chromosomal abnormalities in patients with mental retardation and dysmorphic facial features using telomere fish probes |
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| Clinical and genetic aspects of trigonocephaly: A study of 25 cases |
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| Sperm segregation patterns by fluorescence in situ hybridization studies of a 46,XY,t(2;6) heterozygote giving rise to a rare triploid product of conception with a 69,XXY,t(2;6)(p12;q24)der(6)t(2;6)(p |
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| A supernumerary chromosome 20, identified by FISH, in a male with azoospermia—cause or coincidence? |
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| <i>FOXL2</i>‐mutations in blepharophimosis‐ptosis—epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients |
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| New case of “Apple‐Peel” intestinal atresia and ocular anomalies with mosaic variegated aneuploidy |
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| Routine cytogenetic and FISH studies for 17p11/15q11 duplications and subtelomeric rearrangement studies in children with autism spectrum disorders |
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| Molecular characterization of a 12q22‐q24 deletion associated with congenital deafness: Confirmation and refinement of the DFNA25 locus |
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| Mutation analysis of the MECP2 gene in patients with Rett syndrome |
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| High risk of malignancy in mosaic variegated aneuploidy syndrome |
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| Exclusion of the <i>SALL1</i> gene as a cause of branchio‐oculo‐facial syndrome |
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| CHARGE association and secondary hypoadrenalism |
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| Teebi hypertelorism syndrome: Additional cases |
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| Broad phenotypic spectrum caused by an identical heterozygous <i>CDMP‐1</i> mutation in three unrelated families |
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| Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: Clinical course and phenotypic variations in four patients |
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| Early use of clinical <i>BRCA1/2</i> testing: Associations with race and breast cancer risk |
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✓ |
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| Oligoyric microcephaly in a child with Williams syndrome |
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| Somatic instability of the androgen receptor CAG repeat in a normal female |
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| An unusual family with brachydactyly |
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| New syndrome with generalized lipodystrophy and a distinctive facial appearance: Confirmation of Keppen‐Lubinski syndrome? |
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| X‐linked recessive chondrodysplasia punctata: Spectrum of arylsulfatase E gene mutations and expanded clinical variability |
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| Aural atresia, microtia, complex heart defect, and hearing loss syndrome: Additional case |
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| Clinical paper and statistics |
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| Recombinants of intrachromosomal transposition of subtelomeres in chromosomes 1 and 2: A cause of minute terminal chromosomal imbalances |
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| Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X‐linked trait |
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| Bilateral microphthalmia with cyst, facial clefts, and limb anomalies: A new syndrome with features of Waardenburg syndrome, cerebro‐oculo‐nasal syndrome, and craniotelencephalic dysplasia |
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| Fetology: Diagnosis and Management of the Fetal Patient, by D.W. Bianchi, T.M. Crombleholme, and M.E. D'Alton |
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| Overgrowth Syndromes, Oxford Monographs on Medical Genetics, No. 43, by M.M. Cohen, Jr., G. Neri, and R. Weksberg |
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| Pachygyria and polymicrogyria in 22q11 deletion syndrome |
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| Biological and environmental contributions to adaptive behavior in fragile X syndrome |
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| Prenatal diagnosis of a rare chromosomal instability syndrome: Variegated aneuploidy related to premature centromere division (PCD) |
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| De novo interstitial tandem duplication of chromosome 20p12.1p13 |
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| Chromosomal fragility in patients with triple A syndrome |
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| De novo mutation in the gene encoding connexin‐26 (<i>GJB2</i>) in a sporadic case of keratitis‐ichthyosis‐deafness (KID) syndrome |
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| Female carriers of fragile X premutations have no increased risk for additional diseases other than premature ovarian failure |
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| Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy |
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| Autopsy on a case of Roberts syndrome reported in 1672: The earliest description? |
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| Exclusion of <i>RNX</i> as a major gene in congenital central hypoventilation syndrome (CCHS, Ondine's curse) |
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| The prevalence and manifestations of hereditary hemorrhagic telangiectasia in the Afro‐Caribbean population of the Netherlands Antilles: A family screening |
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Afro‐Caribbean population; people of African descent |
| CFC syndrome |
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| Cardio‐facio‐cutaneous syndrome phenotype and del(12q) |
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| Editor's note: Regarding correspondence on CFC syndrome and interstitial 12q deletions |
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| Parental consanguinity and congenital heart malformations in a developing country |
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| Patient with Sotos syndrome, Wolff‐Parkinson‐White pattern on electrocardiogram, and two right‐sided accessory bypass tracts |
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| Unknown diagnosis in two male cousins with facial abnormalities, optic atrophy, abnormal EEG, and severe psychomotor retardation |
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| Patient with terminal duplication 3q and terminal deletion 5q: comparison with the 3q duplication syndrome and distal 5q deletion syndrome |
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| Gaucher disease associated with parkinsonism: Four further case reports |
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| Lack of association between <i>ZIC2</i> and <i>ZIC3</i> genes and the risk of neural tube defects (NTDs) in hispanic populations |
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hispanic populations |
| An Introduction to Genetic Engineering, 2nd Edition, by Desmond S.T. Nicholl |
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| Speech characteristics in the Kabuki syndrome |
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| Parents' and children's attitudes toward the enrollment of minors in genetic susceptibility research: Implications for informed consent |
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| An angel with Down syndrome in a sixteenth century Flemish Nativity painting |
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one of the earliest European representations of Down syndrome |
| Double supernumerary isodicentric chromosomes derived from 15 resulting in partial hexasomy |
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| Comment on Elejalde syndrome and relationship with Griscelli syndrome |
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| Hypomelanosis, immunity, central nervous system: No more “and”, not the end |
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| 15‐Month‐old infant with failure to thrive, hepatomegaly, increased liver enzymes, hypoproteinemia, and seizures |
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| Apparent encephalocele in twin fetus papyraceus with twin‐reversal arterial perfusion |
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| Griscelli syndrome without hemophagocytosis in an eleven‐year‐old girl: Expanding the phenotypic spectrum of <i>Rab27A</i> mutations in humans |
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Arabic origin |
| Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene <i>ZFHX1B</i> (<i>SIP1</i>): Confirmation of the Mowat‐Wilson syndrome |
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| Familial lateral semicircular canal malformation with external and middle ear abnormalities |
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| Donepezil for the treatment of language deficits in adults with Down syndrome: A preliminary 24‐week open trial |
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| Mosaicism in a patient with Down syndrome reveals post‐fertilization formation of a robertsonian translocation and isochromosome |
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| Scimitar vein anomaly with multiple cardiac malformations, craniofacial, and central nervous system abnormalities in a brother and sister: Familial scimitar anomaly or new syndrome? |
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Italian parents |
| Further delineation of the Toriello‐Carey syndrome: A report of two siblings |
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| Poor outcome in Down syndrome fetuses with cardiac anomalies or growth retardation |
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| Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects |
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Turkish |
| Unique case of deletion and duplication in the long arm of the Y chromosome in an individual with ambiguous genitalia |
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| Genetic testing for hereditary colorectal cancer in children: Long‐term psychological effects |
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| Novel CNS syndrome and ectodermal dysplasia |
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| The Genetics and Biology of Sex Determination (Novartis Foundation Symposia #244), edited by Derek Chadwick and Jamie Goode |
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| Concurrence of fragile X syndrome and 47, XYY in an individual with a Prader‐Willi‐like phenotype |
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| Risk perception of participants in a family‐based genetic screening program on familial hypercholesterolemia |
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| Postnatal growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy |
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| 18q‐ syndrome and ectodermal dysplasia syndrome: Description of a child and his family |
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| Del 22Q11.2 and hemophagocytic lymphohistiocytosis: A non‐random association |
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| Trisomy 8 mosaicism: Selective growth advantage of normal cells vs. growth disadvantage of trisomy 8 cells |
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| Child with overgrowth, pigmentary streaks, polydactyly, and intestinal lymphangiectasia: Macrocephaly–cutis marmorata telangiectatica congenita syndrome or new disorder? |
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| Documentation of anomalies not previously described in Fryns syndrome |
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| Invited comment on Arnold et al., “Documentation of anomalies not previously described in Fryns syndrome” |
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| Cardio‐facio‐cutaneous syndrome: First presentation in a 52‐year‐old woman |
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| Lack of association between Y chromosome haplogroups and male infertility in Japanese men |
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Japanese |
| Clinical and genetic heterogeneity in frontometaphyseal dysplasia: Severe progressive scoliosis in two families |
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| Hereditary gingival fibromatosis (HGF) with hypertrichosis is unlinked to the HGF1 and HGF2 loci |
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| Editor's note |
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| Thermodynamic determination of β‐hexosaminidase isoenzymes in mononuclear and polymorphonuclear leukocyte populations |
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| Distinctive spondylometaphyseal dysplasia in two siblings |
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| Novel mutation in sonic hedgehog in non‐syndromic colobomatous microphthalmia |
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| Muellerian aplasia associated with ring chromosome 8p12q12 mosaicism |
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| Biochemical characterization of two (C300F, P425T) arylsulfatase a missense mutations |
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| Prevalence of mitral valve prolapse in Stickler syndrome |
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| Endogenous hydrogen sulfide overproduction in Down syndrome |
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| Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X‐linked dominant Conradi‐Hunermann‐Happle syndrome and a mutation in <i>EBP</i> |
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| Interrupted aortic arch in a child with trisomy 5q31.1q35.1 due to a maternal (20;5) balanced insertion |
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| What do ratings of cancer‐specific distress mean among women at high risk of breast and ovarian cancer? |
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| True hermaphroditism with ambiguous genitalia due to a complicated mosaic karyotype: Clinical features, cytogenetic findings, and literature review |
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| Hypertrichosis terminalis, gingival hyperplasia, and a characteristic face: A new distinct entity |
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| Two new cases of analphoid marker chromosomes |
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| Atypical progeroid syndrome: An unknown helicase gene defect? |
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| Lack of association between eNOS gene polymorphisms and ischemic heart disease in the Spanish population |
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| X‐linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male |
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| A clinical perspective of cystic fibrosis and new genetic findings: Relationship of CFTR mutations to genotype–phenotype manifestations |
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| Gaucher disease: In vivo evidence for allele dose leading to neuronopathic and nonneuronopathic phenotypes |
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| Congenital myopathy, recurrent secretory diarrhea, bullous eruption of skin, microcephaly, and deafness: A new genetic syndrome? |
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| Recurrence of complex camptopolydactyly in a sibling suggestive of autosomal recessive mode of inheritance |
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| De novo dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnormal phenotype |
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| Humeroradial synostosis, ulnar aplasia and oligodactyly, with contralateral amelia, in a child with prenatal cocaine exposure |
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| TGFβ/Smad signaling system and its pathologic correlates |
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| Mesomelic and rhizomelic short stature: The phenotype of combined Leri‐Weill dyschondrosteosis and achondroplasia or hypochondroplasia |
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| Is immunosuppression therapy in renal allograft recipients teratogenic? A single‐center experience |
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| 46,XY gonadal dysgenesis: Evidence for autosomal dominant transmission in a large kindred |
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| First patient with trisomy 21 accompanied by an additional der(4)(:p11 → q11:) plus partial uniparental disomy 4p15‐16 |
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| Velocardiofacial syndrome in an unexplained XX male |
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| Incidence of Smith‐Lemli‐Opitz syndrome in Ontario, Canada |
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| Hemifacial myohyperplasia: An additional case |
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| Down syndrome before down: A postscript |
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| Communication with close and distant relatives in the context of genetic testing for hereditary breast and ovarian cancer in cancer patients |
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| Further delineation of Wittwer syndrome and refinement of the mapping region |
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| Mild phenotype in a 15‐year‐old boy with Pallister–Killian syndrome |
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| Molecular cytogenetic analysis of a constitutional de novo interstitial deletion of chromosome 12p in a boy with developmental delay and congenital anomalies |
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| 45,X/46,XY mosaicism and fragile X syndrome |
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| Reply to correspondence from Martínez‐Frías et al.—“Incidence of Smith‐Lemli‐Opitz syndrome in Ontario, Canada” |
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| A distinct neurocognitive phenotype in female fragile‐X premutation carriers assessed with visual attention tasks |
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| Two sibs with brachyolmia type Hobaek: Five year follow‐up through puberty |
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