Ring 1 chromosome and dwarfism—a possible syndrome

Ring 1 chromosome and dwarfism—a possible syndrome

A girl, age 26 months, with profound dwarfism, mental retardation, and minor congenital abnormalities was studied. Cytogenetic analysis revealed a ring 1 chromosome in all of the cells counted. The patient is so similar clinically to the one child previously reported with a ring 1 chromosome that th...

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Veröffentlicht in:The Journal of pediatrics 1967-11, Vol.71 (5), p.719-722
Hauptverfasser: Wolf, Charles B., Peterson, James A., LoGrippo, Gerald A., Weiss, Lester
Format: Artikel
Sprache:eng
Schlagworte:
Child, Preschool
Chromosome Aberrations
Chromosome Disorders
Chromosomes, Human, 1-3
Dermatoglyphics
Dwarfism - genetics
Female
Humans
Intellectual Disability - genetics
Intelligence Tests
Karyotyping
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Zusammenfassung:A girl, age 26 months, with profound dwarfism, mental retardation, and minor congenital abnormalities was studied. Cytogenetic analysis revealed a ring 1 chromosome in all of the cells counted. The patient is so similar clinically to the one child previously reported with a ring 1 chromosome that the two patients may represent a clinical syndrome.
ISSN:0022-3476
1097-6833
DOI:10.1016/S0022-3476(67)80211-7