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

✍ Scribed by De Brasi, D. ;Rossi, E. ;Giglio, S. ;D'Agostino, A. ;Titomanlio, L. ;Farina, V. ;Andria, G. ;Sebastio, G.

Publisher: John Wiley and Sons
Year: 2001
Tongue: English
Weight: 249 KB
Volume: 104
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1589

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✦ Synopsis

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 Â 2, D1S423 Â 2, tel1q-). The phenotype of the patient is characterized by macrocephaly with prominent forehead, downslanting palpebral ®ssures, 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.

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