We report a case of ring chromosome 6 presenting with growth and mental retardation,
cerebral dysgenesis, eye malformations, mixed hearing loss, and abnormal physical …

Here we summarize the clinical findings of five new patients and nine patients reported in
the literature with deletions of the short arm of chromosome 6. The del (6p) syndrome …

Routine chromosomal analysis using GTG-banding alone showed a mosaic terminal
deletion of 6q in a 14-week-old boy with developmental retardation, facial anomalies …

A study of the ring chromosome 13 syndrome is presented with detailed clinical and
cytogenetic features of three new unrelated cases. The clinical limits of this syndrome can …

We report on a patient with deficiency of distal 6p and compare the clinical and cytogenetic
findings in this child with those of three previously reported patients who had similar …

Ring chromosome 6: Variability in phenotypic expression Page 1 American Journal of Medical
Genetics 16563473 (1983) Ring Chromosome 6: Variability in Phenotypic Expression JN …

We present the necropsy findings of a 21‐weekgestation male fetus with deletion of the
terminal portion of long arm of chromosome 6 [46, XY, del (6)(q23→ qter)]. Major anomalies …

A patient with ring chromosome 6 had most of the manifestations previously reported in this
syndrome and also had albinoid fundi and unilateral aniridia, findings not previously …

The phenotype of patients with a ring chromosome 6 can be highly variable ranging from
almost normal to severe malformations and mental retardation. Size and structure of the ring …

A premature infant with unilateral aniridia and congenital ectropion uveae, contralateral
Rieger anomaly, bilateral congenital glaucoma, and hydrocephalus was found to have ring …