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The Quarterly Review of Biology, ISSN 0033-5770, 09/1990, Volume 65, Issue 3, pp. 390 - 390
Journal Article
Geburtshilfe und Frauenheilkunde, ISSN 0016-5751, 1991, Volume 51, Issue 12, pp. 984 - 989
Journal Article
Teratology, ISSN 0040-3709, 02/1989, Volume 39, Issue 2, pp. 127 - 135
Limb reduction defects occurring among 1,213,913 consecutive livebirths in British Columbia during the period 1952–1984 inclusive were reviewed. A total of 659... 
DEVELOPMENTAL BIOLOGY | TOXICOLOGY | Rural Population | Humans | Abnormalities, Multiple - epidemiology | Family Health | Female | Male | Registries | British Columbia | Leg - abnormalities | Arm - abnormalities | Urban Population | Cohort Studies
Journal Article
09/1990, Volume 65, Issue 3
Book Review
Book Review
Teratology, ISSN 0040-3709, 01/1990, Volume 41, Issue 1, pp. 23 - 31
Amelia, or complete absence of a limb, is a very rare congenital anomaly. The incidence of amelia in a population of 1,213,913 consecutive livebirths in... 
DEVELOPMENTAL BIOLOGY | TOXICOLOGY | Thalidomide - adverse effects | Abnormalities, Drug-Induced | Diagnosis, Differential | Ectromelia - diagnosis | Humans | Abnormalities, Multiple | Female | Male | British Columbia | Ectromelia - epidemiology | Ectromelia - etiology | Infant, Newborn
Journal Article
American Journal of Medical Genetics, ISSN 0148-7299, 07/1988, Volume 30, Issue 3, pp. 763 - 769
We report on a patient with a lethal multiple pterygium syndrome who also had an unusual, bandlike web across one axilla and partial intestinal atresia.... 
arthrogryposis | banding | axillary webbing | lethal multiple pterygium syndrome | intestinal atresia
Journal Article
Clinical Genetics, ISSN 0009-9163, 03/1987, Volume 31, Issue 3, pp. 170 - 177
A family with three siblings showing different manifestations of Roberts syndrome or SC phocomelia is described. With regard to previously published cases of... 
Roberts syndrome | SC phocomelia | prenatal diagnosis | centromere separation of chromosomes | pseudothalidomide syndrome | Appelt‐Gerken‐Lenz syndrome | Chromosome Banding | Pedigree | Humans | Abnormalities, Multiple - genetics | Syndrome | Ectromelia - genetics
Journal Article
Human Genetics, ISSN 0340-6717, 04/1983, Volume 63, Issue 2, pp. 153 - 157
Among 242 institutionalized mentally retarded males in Northern Germany screened for fra(X)(q), 15 (6.2%) with severe mental retardation expressing fra(X)(q)... 
Ear - anatomy & histology | Chromosome Banding | Humans | Middle Aged | Cells, Cultured | Male | Chromosome Disorders | Lymphocytes - cytology | Functional Laterality | Sex Chromosomes | Intellectual Disability - genetics | Sex Chromosome Aberrations | Karyotyping | Adolescent | Chromosome Aberrations | X Chromosome | Adult | Female
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 04/1987, Volume 316, Issue 17, pp. 1093 - 1093
To the Editor: The fra(X) form of X-linked mental retardation is now recognized to be one of the most common conditions in mental retardation. 1 , 2 Chromosome... 
False Negative Reactions | Male | Chromosome Fragility | Folic Acid - pharmacology | Humans | Intellectual Disability - genetics
Journal Article
Clinical Genetics, ISSN 0009-9163, 12/1984, Volume 26, Issue 6, pp. 549 - 554
Cytogenetic and morphological findings of a 20‐gestational‐week‐old female fetus with karyotype 46, XX, i(18q) are reported. The fetus displayed clinical... 
prenatal diagnosis | isochromosome 18q | Edward's syndrome | Chromosome Banding | Humans | Prenatal Diagnosis | Genotype | Male | Chromosome Disorders | Syndrome | Pregnancy | Phenotype | Chromosomes, Human, 16-18 | Karyotyping | Chromosome Aberrations | Adult | Female | Fetus
Journal Article
Human Genetics, ISSN 0340-6717, 1984, Volume 67, Issue 4, pp. 419 - 427
It is well established that apparently unaffected males can be transmitters of the marker X syndrome trait. Cytogenetic and clinical investigations of these... 
Fragile X Syndrome - genetics | Humans | Middle Aged | Child, Preschool | Male | Sex Chromosome Aberrations - genetics | Genetic Markers | Phenotype | Pedigree | Adolescent | X Chromosome | Adult | Female | Heterozygote | Aged | Child
Journal Article
Human Genetics, ISSN 0340-6717, 1984, Volume 66, Issue 4, pp. 344 - 346
The IQ levels of 18 female carriers with the marker X chromosome were evaluated, and cytogenetic studies after BrdU incorporation were performed. A highly... 
Fragile X Syndrome - genetics | Humans | Middle Aged | Child, Preschool | DNA Replication | Sex Chromosome Aberrations - genetics | Genetic Markers | Intelligence Tests | Dosage Compensation, Genetic | Adolescent | Adult | Female | Heterozygote | Lymphocytes - ultrastructure
Journal Article
American Journal of Medical Genetics, ISSN 0148-7299, 05/1988, Volume 30, Issue 1‐2, pp. 407 - 415
Female heterozygotes of the fra(X) form of mental retardation show variable degrees of mental impairment and phenotype expression of the disorder. This might... 
heterozygotes | X‐inactivation | X‐linked mental retardation with fra(X) | Fragile X Syndrome - genetics | Dosage Compensation, Genetic | Phenotype | Intelligence | Fragile X Syndrome - psychology | Humans | Bromodeoxyuridine | Female | Heterozygote | Male | Sex Chromosome Aberrations - genetics
Journal Article
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