Ring 1 chromosome and dwarfism—a possible syndrome

doi:10.1016/S0022-3476(67)80211-7

The Journal of Pediatrics

Volume 71, Issue 5, November 1967, Pages 719-722

https://doi.org/10.1016/S0022-3476(67)80211-7 Get rights and content

Summary

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.

References (4)

GordonR.R. et al.
Ring 1 chromosome and microcephalic dwarfism
Lancet
(1964)
MoorheadP.S. et al.
Chromosome preparations of leukocytes cultured from human peripheral blood
Exper. Cell Res.
(1960)

There are more references available in the full text version of this article.

Cited by (19)

Dermatoglyphics: An international perspective
2021, Dermatoglyphics: An International Perspective
Systemic and ocular manifestations of a patient with mosaic ARID1A-associated Coffin-Siris syndrome and review of select mosaic conditions with ophthalmic manifestations
2020, American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Oculofacial manifestations of chromosomal aberrations
2017, The Eye in Pediatric Systemic Disease
A patient with constitutional ring 1 chromosome characterized by SNP array CGH
2016, Clinical Case Reports
The central nervous system in microcephalic primordial dwarfism: Is there a characteristic developmental brain pathology in Seckel or Seckel-like syndrome?
2000, Congenital Anomalies
Monosomy 1p36
1999, Journal of Medical Genetics

View all citing articles on Scopus

^*: Address, Department of Pediatrics, Henry Ford Hospital, 2799 West Grand Blvd., Detroit, Mich. 48202.

View full text

Brief clinical and laboratory observationRing 1 chromosome and dwarfism—a possible syndrome

Summary

Lancet

Exper. Cell Res.

Brief clinical and laboratory observation
Ring 1 chromosome and dwarfism—a possible syndrome