Mosaic tetrasomy 15q25{yields}qter in a newborn infant with multiple anomalies

Journal Article · Fri Jun 14 00:00:00 EDT 1996 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/(SICI)1096-8628(19960614)63:3<482::AID-AJMG13>3.0.CO;2-I· OSTI ID:508400

Van den Enden, A; Roy, N V; Speleman, F ^[1]

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1. Univ. Hospital, Gent (Belgium)

We describe a premature boy with metopic craniosynostosis, facial anomalies, atrial-septal defect, hydronephrosis and flexion contractures of lower limbs, and mosaic tetrasomy 15q25{r_arrow}qter. The extra chromosome material was present in the form of an acentric marker. A number of clinical manifestations observed in this child were also found in 3 previously reported patients who were trisomic for the same part of chromosome 15 and in 2 patients who were tetrasomic for a larger segment of 15q. 17 refs., 4 figs., 1 tab.

• OSTI ID: 508400
• Journal Information: American Journal of Medical Genetics, Vol. 63, Issue 3; Other Information: PBD: 14 Jun 1996
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
HUMAN CHROMOSOME 15
MOSAICISM
CHROMOSOMAL ABERRATIONS
GENETIC MAPPING
INFANTS
CONGENITAL MALFORMATIONS
HEREDITARY DISEASES
PHENOTYPE
ONCOGENES
DNA-CLONING
BIOLOGICAL MARKERS
PROBES
FLUORESCENCE
IN-SITU HYBRIDIZATION
BANDING TECHNIQUES
CENTROMERES