Pallister-Killian syndrome detected by fluorescence in situ hybridization

Journal Article · Mon Jul 03 04:00:00 EDT 1995 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320570330· OSTI ID:105217

Butler, M G; Dev, V G ^[1]

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1. Genetics Associates, Nashville, TN (United States)

The Pallister-Killian syndrome is a rare cytogenetic condition first described in 1977 by Pallister et al. in 3 adults; the first affected child was reported in 1981. This syndrome (also known as Pallister mosaic aneuploidy syndrome or isochromosome 12p mosaicism) is characterized by postnatal growth retardation, seizures, hypotonia, deafness, profound mental retardation, minimal speech development, and a distinctive facial appearance (high prominent forehead, ocular hypertelorism, sparse anterior scalp hair, prominent lower lip, large ears with thick protruding lobules, cupid-bow shaped upper lip, and a long philtrum). A chromosome 12 abnormality (tetrasomy 12p) has been reported in skin biopsies from these patients but this chromosome anomaly is usually not found (or in only a small proportion, e.g., <0.5%, of blood cells) in peripheral blood. We report on an additional patient with Pallister-Killian syndrome confirmed with fluorescence in situ hybridization (FISH) using an alpha satellite DNA probe for chromosome 12. This report further illustrates the application of FISH in identifying the source of chromosomal markers of unknown origin in infants with multiple congenital anomalies specifically before the natural history of a condition allows for definitive diagnosis based on clinical findings. 9 refs., 2 figs.

• OSTI ID: 105217
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 3 Vol. 57; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
ACCURACY
ANEUPLOIDY
BANDING TECHNIQUES
BIOLOGICAL MARKERS
BIOPSY
BLOOD CELLS
CHROMOSOMAL ABERRATIONS
CONGENITAL MALFORMATIONS
DETECTION
DNA HYBRIDIZATION
FLUORESCENCE
HUMAN CHROMOSOME 12
KARYOTYPE
MENTAL DISORDERS
MOSAICISM
PATIENTS
SKIN