PARTIAL TETRASOMY WITH TRIPLICATION OF CHROMOSOME (5) (P14-P15.33) INA PATIENT WITH SEVERE MULTIPLE CONGENITAL-ANOMALIES

We report on a newborn infant with a de novo triplication of the dista l segment of 5p: 46,XX,trp(5) (pter-->p14::p14-->p15.33::p15.33--> qte r) and multiple congenital anomalies consistent with triplication of 5 p, Partial triplication was documented by fluorescence in situ hybridi zation with a cosmid probe specific for 5p15.2 and microdissected prob es obtained from ''5pter,'' Partial duplication of the short arm of ch romosome 5 is associated with a specific phenotype that appears to be dependent on the chromosomal region duplicated. Duplication of 5p with breakpoints proximal to band p14 is generally associated with distinc t craniofacial malformations, cardiac, renal, intestinal, and limb def ects, and mental retardation, whereas duplications with breakpoints di stal to 5p14 result in a milder phenotype characterized by minor facia l anomalies, developmental delay, and seizures. The most proximal brea kpoints of the partial triplication in this patient was estimated to b e 5p14, suggesting that a more severe phenotype can occur with triplic ation of the more distal segment. Am. J, Med. Genet, 79:103-107, 1998, (C) 1998 Wiley-Liss, Inc.