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Inv dup del (1)(pter?q44::q44?q42:) with the classical phenotype of trisomy 1q42-qter

2001; Wiley; Volume: 104; Issue: 2 Linguagem: Inglês

10.1002/ajmg.1589

1096-8628

Daniele De Brasi, Elena Rossi, Sabrina Giglio, Antonio D’Agostino, Luigi Titomanlio, Vincenzo Farina, Generoso Andria, Gianfranco Sebastio,

Congenital Ear and Nasal Anomalies

We report on a girl with a trisomy 1q42–q44 due to an inverted duplication of this region, associated with a terminal deletion of the long arm of the rearranged chromosome 1. Both the large duplication (more than 30 cM) and the small deletion were detected by FISH. Complete karyotype was: (46,XX, inv dup(1)(q44q42).ish(dup del 1)(q44q42)(D1S446×2, D1S423×2, tel1q-). The phenotype of the patient is characterized by macrocephaly with prominent forehead, downslanting palpebral fissures, micrognathia, and psychomotor retardation. All these clinical features are the same as observed for the typical trisomy 1q42–qter syndrome. The phenotypic effects of the inversion and the terminal deletion of 1q in addition to the trisomy are discussed here. © 2001 Wiley-Liss, Inc.