Data di Pubblicazione:
2001
Citazione:
Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter / De Brasi, D; Rossi, E; Giglio, Sabrina Rita; D'Agostino, A; Titomanlio, L; Farina, V; Andria, G; Sebastio, G.. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. - ISSN 0148-7299. - 104:(2001), pp. 127-130.
Abstract:
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)(D1S4462, D1S4232, 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.
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)(D1S4462, D1S4232, 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.
Tipologia CRIS:
1.1 Articolo in rivista
Keywords:
partial trisomy 1q; trisomy 1q42±q44; inverted duplications; deletion
Elenco autori:
De Brasi, D; Rossi, E; Giglio, Sabrina Rita; D'Agostino, A; Titomanlio, L; Farina, V; Andria, G; Sebastio, G.
Link alla scheda completa:
Pubblicato in: