46,XY/47,XYY/48,XYYY karyotype in a 3-year-old boy ascertained because of radioulnar synostosis

Journal Article · Mon May 08 00:00:00 EDT 1995 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320560408· OSTI ID:102881

James, C; Robson, L; Jackson, J ^[1]

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1. Children`s Hospital, Sydney (Australia); and others

Chromosome analysis was performed on a 3-year-old boy because of bilateral radioulnar synostosis and demonstrated a mosaic karyotype 46,XY/47,XYY/48,XYYY. He had minor facial anomalies and mild intellectual delay. He appears to be the youngest patient reported with this rare chromosome complement. His father, mother, and brother had normal chromosomes. Fluorescence in situ hybridization (FISH) was performed on the propositus and his father with the Y chromosome heterochromatic probe (pHY3.4) to add to the evaluation of mosaicism. 17 refs., 3 figs., 2 tabs.

• Sponsoring Organization: USDOE
• OSTI ID: 102881
• Journal Information: American Journal of Medical Genetics, Vol. 56, Issue 4; Other Information: PBD: 8 May 1995
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
PATIENTS
PHENOTYPE
CONGENITAL MALFORMATIONS
HEREDITARY DISEASES
MENTAL DISORDERS
HETEROCHROMOSOMES
ANEUPLOIDY
HUMAN Y CHROMOSOME
CHROMOSOMAL ABERRATIONS
MOSAICISM
GENETICS
DNA HYBRIDIZATION
FLUORESCENCE
PROBES
KARYOTYPE