Deletion of 7q22 and ectrodactyly. 1991

H Rivera, and J Sanchez-Corona, and V R Burgos-Fuentes, and M J Melendez-Ruiz
División de Genetica, Centro Médico de Occidente, Guadalajara, Jal.

We report the case of an infant with 3-limb ectrodactyly and a deletion of most of 7q22. This observation, along with 4 similar cases from the literature, suggests the presence of a locus affecting limb differentiation in 7q22 near to the proximal interface.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
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
D008297 Male Males
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D002872 Chromosome Deletion Actual loss of portion of a chromosome. Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D002897 Chromosomes, Human, Pair 7 A specific pair of GROUP C CHROMOSOMES of the human chromosome classification. Chromosome 7
D004480 Ectromelia Gross hypo- or aplasia of one or more long bones of one or more limbs. The concept includes amelia, hemimelia, phocomelia, and sirenomelia. Amelia,Congenital Limb Reduction Deformities,Congenital Limb Reduction Deformity,Hemimelia,Phocomelia,Sirenomelia,Fused Legs and Feet,Mermaid Malformation,Mermaid Syndrome,Sirenomelia Sequence,Sirenomelus,Malformation, Mermaid,Sequence, Sirenomelia,Sirenomelia Sequences,Syndrome, Mermaid
D005385 Fingers Four or five slender jointed digits in humans and primates, attached to each HAND. Finger
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015 Abnormalities, Multiple Congenital abnormalities that affect more than one organ or body structure. Multiple Abnormalities

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