Monosomy 1p36.31-33{yields}pter due to a paternal reciprocal translocation: Prognostic significance of FISH analysis

Journal Article · Wed Oct 02 00:00:00 EDT 1996 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/(SICI)1096-8628(19961002)65:1<60::AID-AJMG10>3.0.CO;2-P· OSTI ID:539202

Blennow, E; Bui, The-Hung; Wallin, A ^[1]

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1. Karolinska Institute, Stockholm (Sweden); and others

A rare monosomy 1p36.31-33{r_arrow}pter was found in a child with physical anomalies, psycho-motor retardation, and seizures. Cytogenetic investigation suggested an unbalanced translocation between 1p and an acrocentric chromosome, but the rearrangement was difficult to assess accurately using conventional chromosome banding techniques. The half-cryptic translocation was further characterized using fluorescence in situ hybridization, and the aberrant chromosome 1 was shown to be a derivate of a paternal reciprocal translocation t(1;15)(p36.31-33;p11.2-12). The breakpoints on chromosome 1 and 15 were defined in detail using locus specific probes. The rearrangement did not include the region on chromosome 1p which previously has been suggested to predispose to the development of neuroblastoma in a case with a constitutional translocation. At 3 6/12 years, the patient has no clinical signs of this disease, which illustrates the prognostic significance of this investigation. 30 refs., 4 figs., 1 tab.

• OSTI ID: 539202
• Journal Information: American Journal of Medical Genetics, Vol. 65, Issue 1; Other Information: PBD: 2 Oct 1996
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
HUMAN CHROMOSOME 1
CHROMOSOMAL ABERRATIONS
GENETIC MAPPING
SEX DEPENDENCE
DETECTION
PATIENTS
HEREDITARY DISEASES
MENTAL DISORDERS
PHENOTYPE
ACROCENTRIC CHROMOSOMES
RESOLUTION
HUMAN CHROMOSOME 15
GENETICS
FLUORESCENCE
IN-SITU HYBRIDIZATION
PROBES
BIOLOGICAL MARKERS