title: Mosaic tetrasomy 15q25-->qter in a newborn infant with multiple anomalies.
abstract: 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.
authors: Department of Medical Genetics, University Hospital, Gent, Belgium.
authors: A
authors: A
authors: Van den Enden
authors: M R
authors: MR
authors: Verschraegen-Spae
authors: N
authors: N
authors: Van Roy
authors: W
authors: W
authors: Decaluwe
authors: C
authors: C
authors: De Praeter
authors: F
authors: F
authors: Speleman
mesh_terms: 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