Phenotypic variation in two patients with a ring chromosome 22

Two severely mentally retarded patients with a ring chromosome 22 presented with disparate phenotypes: one patient manifested only minimal dysmorphic features, whereas the other had a distinctive pattern of anomalies consisting of an abnormal skull configuration with mild maxillary hypoplasia, a large nose, thick full lips, a protruding tongue, lymphedema, hypotonia and an unsteady gait. The findings in these and previously reported patients indicate that a ring chromosome 22 is usually associated with moderate to severe mental retardation, with a range of dysplastic features from mild and nonspecific to more marked and distinctive.

[1]  K. Gustavson,et al.  Apparently non‐deleted ring‐1 chromosome and extreme growth failure in a mentally retarded girl , 1978, Clinical genetics.

[2]  A. Hunter,et al.  Phenotypic correlations in patients with ring chromosome 22 , 1977, Clinical genetics.

[3]  P. Howard‐Peebles.  Indications for chromosome analysis illustrated by a case of ring 22. , 1977, Journal of Heredity.

[4]  T. Reed,et al.  Four new cases of ring 21 and 22 including familial transmission of ring 21. , 1977, Journal of medical genetics.

[5]  B. W. Richards,et al.  A note on a patient with a ring-22 chromosome identified by banding. , 2008, Journal of mental deficiency research.

[6]  D. Brookfield,et al.  A case of ring chromosome. , 1976, Journal of medical genetics.

[7]  A. Rundle,et al.  A profoundly mentally handicapped woman with a ring chromosome 22. , 2008, Journal of mental deficiency research.

[8]  M A Melyn,et al.  Mental and developmental milestones of noninstitutionalized Down's syndrome children. , 1973, Pediatrics.

[9]  M. Bobrow,et al.  Monozygotic Twins with Ring Chromosome 22 , 1973, Journal of medical genetics.

[10]  C. Stoll,et al.  Chromosome 22 en anneau r(22): identification par dénaturation thermique ménagée. , 1973 .

[11]  D. Rimoin,et al.  Identification by fluorescent microscopy of the abnormal chromosomes associated with the G-deletion syndromes. , 1973, American journal of human genetics.

[12]  C. Anderson,et al.  Long-Arm Deletion of Chromosome 22, with Protein-Losing Enteropathy , 1972, Proceedings of the Royal Society of Medicine.

[13]  F. Hecht,et al.  Identification by fluorescence of two G rings: (46,XY,21r) G deletion syndrome I and (46, XX, 22r) G deletion syndrome II. , 1972, Annales de genetique.

[14]  B. Crandall,et al.  Identification of 21 r and 22r chromosomes by quinacrine fluorescence , 1972, Clinical genetics.

[15]  B. W. Richards,et al.  G-group ring chromosome in a mentally subnormal girl. , 2010, Journal of mental deficiency research.

[16]  D. Rimoin,et al.  The G deletion syndromes. , 1970, The Journal of pediatrics.

[17]  F. Hecht,et al.  Ring-G chromosome, a new G-deletion syndrome? , 1968, American journal of diseases of children.

[18]  P. Sourdille,et al.  Accidents oculaires des antipaludéens de synthèse (a propos de 4 nouvelles observations) , 1966 .