Mosaic tetrasomy 15q25-->qter in a newborn infant with multiple anomalies.
We describe a premature boy with metopic craniosynostosis, facial anomalies, atrial-septal defect, hydronephrosis and flexion contractures of lower limbs, and mosaic tetrasomy 15q25-->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.
Van den Enden
A
A
Department of Medical Genetics, University Hospital, Gent, Belgium.
Verschraegen-Spae
M R
MR
Van Roy
N
N
Decaluwe
W
W
De Praeter
C
C
Speleman
F
F
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D000782:Aneuploidy; D002884:Chromosomes, Human, Pair 15; D004423:Ear / Q000002:abnormalities; D005145:Face / Q000002:abnormalities; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities / Q000473:pathology; D008297:Male; D009030:Mosaicism; D011247:Pregnancy; D012886:Skull / Q000002:abnormalities; D014314:Trisomy