Non‐reciprocal translocation (5;15), isodicentric (15) and Prader‐Willi syndrome

Abstract

A non-reciprocal translocation (5;15) and an isodicentric (15) resulting in trisomy 15pter----15q1?3 and monosomy 5qter [46,XY,-5,-15,+der(5)t(5;15) (5pter----5q35::15q13----15qter),+idic(15) (pter----q1?3::q1?3----pter)] was found in a 28-year-old profoundly retarded male resident of a state institution. Early developmental history and childhood and adult physical findings resembled those of Prader-Willi syndrome (PWS) patients. The parents' unbanded chromosomes were normal. Blood groups of parents and propositus were uninformative with regard to identifying gene deletions or duplications.

Reciprocal translocation between the proximal regions of the long arms of chromosomes 13 and 15 resulting in unbalanced offspring: characterization by fluorescence in situ hybridization and DNA analysis

“…Partial trisomy of the proximal long arm of chromosome 15 is responsible for a rather nonspecific spectrum of anomalies. The most frequent symptoms are mental retardation, epilepsy, microcephaly and some dysmorphic features, such as high-arched or cleft palate and anomalies of the extremities (Hood et al 1986;Murdock and Wurster-Hill 1986;Herweijer et al 1988). Hydrocephalus, as seen in our patients, has also been reported in trisomy of proximal 15q (Hood et al 1986;Schmid et al 1986;Schwanitz et al 1988).…”

True telomeric translocation in a baby with the Prader‐Willi phenotype

“…Parental origin was identified in 4 de novo cases; it was always paternal, as in the present case. Three of the 34 cases were apparently balanced; in 3 cases CWulfsberg et al, 1982;Murdock and Wurster-Hill, 1986;Kousseff et al, 19871 constitution including just the larger derivative. An unbalanced translocation with a less terminal breakpoint would involve monosomy for part of the recipient chromosome as well as for proximal 15q.…”

The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders

“…However, increased recognition of the disorder, expansion of the scope of clinical assessments, and the active involvement of parents and other caregivers worldwide had begun to alter the extent of clinical involvement in the management of this unique neurodevelopmental disorder prior to 1999. 1 Early longitudinal studies 2 revealed that after the initial stagnation and regression of development, children reach a “steady state” in adolescence and adulthood. Neuropathological studies 3 shifted the perception from “degenerative” to the current perspective of a neurodevelopmental disorder.…”