BIOMAT Database Logo BIOMAT Database Logo

On the deletion 4p16 Wolf-Hirschhorn syndrome. 1979

F Rivas, and A Hernandez, and Z Nazara, and R Fragoso, and N Olivares, and A Rolon, and J M Cantu

Two girls (aged 46 and 5 months) and one boy aged 5 months) were studied and found to have the Wolf-Hirschhorn syndrome. Chromosomal complement in all three cases implicated the deletion of the 4p16 band ; in two of them an extra segment of autosomal material was found to be translocated to 4p. Parents' karyotypes were normal. It is concluded that the expression of the 4p16 monosomy is stronger than that of some simultaneous partial trisomies.

UI MeSH Term Description Entries
D007621 Karyotyping Mapping of the KARYOTYPE of a cell. Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D008607 Intellectual Disability Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28) Disability, Intellectual,Idiocy,Mental Retardation,Retardation, Mental,Deficiency, Mental,Intellectual Development Disorder,Mental Deficiency,Mental Retardation, Psychosocial,Deficiencies, Mental,Development Disorder, Intellectual,Development Disorders, Intellectual,Disabilities, Intellectual,Disorder, Intellectual Development,Disorders, Intellectual Development,Intellectual Development Disorders,Intellectual Disabilities,Mental Deficiencies,Mental Retardations, Psychosocial,Psychosocial Mental Retardation,Psychosocial Mental Retardations,Retardation, Psychosocial Mental,Retardations, Psychosocial Mental
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D002869 Chromosome Aberrations Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS. Autosome Abnormalities,Cytogenetic Aberrations,Abnormalities, Autosome,Abnormalities, Chromosomal,Abnormalities, Chromosome,Chromosomal Aberrations,Chromosome Abnormalities,Cytogenetic Abnormalities,Aberration, Chromosomal,Aberration, Chromosome,Aberration, Cytogenetic,Aberrations, Chromosomal,Aberrations, Chromosome,Aberrations, Cytogenetic,Abnormalities, Cytogenetic,Abnormality, Autosome,Abnormality, Chromosomal,Abnormality, Chromosome,Abnormality, Cytogenetic,Autosome Abnormality,Chromosomal Aberration,Chromosomal Abnormalities,Chromosomal Abnormality,Chromosome Aberration,Chromosome Abnormality,Cytogenetic Aberration,Cytogenetic Abnormality
D002871 Chromosome Banding Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping. Banding, Chromosome,Bandings, Chromosome,Chromosome Bandings
D002872 Chromosome Deletion Actual loss of portion of a chromosome. Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D002905 Chromosomes, Human, 4-5 The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5. Chromosomes B,Group B Chromosomes,Chromosome, Group B,Chromosomes, Group B,Group B Chromosome
D005260 Female Females

Related Publications

F Rivas, and A Hernandez, and Z Nazara, and R Fragoso, and N Olivares, and A Rolon, and J M Cantu
A rare subtelomeric deletion syndrome: Wolf Hirschhorn syndrome.
January 2014, Genetic counseling (Geneva, Switzerland),
F Rivas, and A Hernandez, and Z Nazara, and R Fragoso, and N Olivares, and A Rolon, and J M Cantu
Mouse models for the Wolf-Hirschhorn deletion syndrome.
January 2001, Human molecular genetics,
F Rivas, and A Hernandez, and Z Nazara, and R Fragoso, and N Olivares, and A Rolon, and J M Cantu
Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome.
October 2007, Journal of medical genetics,
F Rivas, and A Hernandez, and Z Nazara, and R Fragoso, and N Olivares, and A Rolon, and J M Cantu
Wolf-Hirschhorn (4p deletion) syndrome: report of one case.
January 2000, Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi,
F Rivas, and A Hernandez, and Z Nazara, and R Fragoso, and N Olivares, and A Rolon, and J M Cantu
Ophthalmic features of chromosome deletion 4p- (Wolf-Hirschhorn syndrome).
December 1978, American journal of ophthalmology,
F Rivas, and A Hernandez, and Z Nazara, and R Fragoso, and N Olivares, and A Rolon, and J M Cantu
Extensive Mongolian spots in 4p16.3 deletion (Wolf-Hirschhorn syndrome).
July 2014, Clinical dysmorphology,
F Rivas, and A Hernandez, and Z Nazara, and R Fragoso, and N Olivares, and A Rolon, and J M Cantu
Wolf-Hirschhorn syndrome.
April 2008, Journal of the College of Physicians and Surgeons--Pakistan : JCPSP,
F Rivas, and A Hernandez, and Z Nazara, and R Fragoso, and N Olivares, and A Rolon, and J M Cantu
[Wolf-Hirschhorn syndrome].
January 1985, La Pediatria medica e chirurgica : Medical and surgical pediatrics,
F Rivas, and A Hernandez, and Z Nazara, and R Fragoso, and N Olivares, and A Rolon, and J M Cantu
Wolf-Hirschhorn syndrome.
March 1971, American journal of diseases of children (1960),
F Rivas, and A Hernandez, and Z Nazara, and R Fragoso, and N Olivares, and A Rolon, and J M Cantu
[Wolf-Hirschhorn syndrome].
January 2004, Medicinski arhiv,
Copied contents to your clipboard!