Ring chromosomes are rare entities, usually associated with phenotypic abnormalities in
correlation with the loss of genetic material. There are various breakpoints and sometimes …

We report on the cytogenetic and molecular characterization of a constitutional de novo ring
chromosome 22 (r (22)) in 2 unrelated patients with emphasis on different hypotheses …

ABSTRACT Ring chromosome 22 [r (22)], a rare cytogenetic finding, has been described in
nearly 70 cases to date. Cytogenetic investigations were carried out on a 5-year-old male …

We report here a child with a ring chromosome 2 [r (2)] associated with failure to thrive,
microcephaly and dysmorphic features. The chromosomal aberration was defined by …

About 250 cases of ring chromosome 22 (RC22) have been reported in the literature.
Approximately 90% of RC22 cases have a deletion of the terminal band, 22q13, compatible …

Objective: To describe the chromosomal alterations in patients with mental retardation (MR)
using G-banding karyotype analysis. Method: A retrospective study of the results G-banding …

The incidence of ring chromosome 22, which was first described by Weber et al. in 1968, is
not known yet. Phenotypic features such as craniofacial anomalies, growth and …

FROM CLINIC GENETICS AND CYTOGENETICS TO MODERN METHODS IN MEDICAL
GENETICS Page 1 "GRIGORE T. POPA" UNIVERSITY OF MEDICINE AND PHARMACY IAȘI …

In this study, candidate loci for periodic catatonia (SCZD10, OMIM# 605419) on
chromosome 15q15 and 22q13. 33 have been fine mapped and investigated. Previously …

Phelan-McDermid syndrome, also known as 22q13. 3 deletion syndrome, is characterized
by global developmental delay, absent or delayed speech, generalized hypotonia, and …