Inv dup del (1)(pter?q44::q44?q42:) with the classical phenotype of trisomy 1q42-qter
Copyright policy )Inv dup del (1)(pter?q44::q44?q42:) with the classical phenotype of trisomy 1q42-qter
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)(D1S446x2, D1S423x2, 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.
- University of Cagliari Italy
- Federico II University Hospital Italy
- University of Pavia Italy
- University of Florence Italy
- University Federico II of Naples Italy
Developmental Disabilities, Trisomy, partial trisomy 1q, Chromosome Banding, "GENOTYPE PHENOTYPE CORRELATIONS", Phenotype, partial trisomy 1q; trisomy 1q42±q44; inverted duplications; deletion, Chromosomes, Human, Pair 1, Gene Duplication, Karyotyping, "INVERTED DUPLICATION", "TERMINAL DELETION", Humans, inverted duplications, Female, deletion, Chromosome Deletion, Child, In Situ Hybridization, Fluorescence, trisomy 1q42±q44
Developmental Disabilities, Trisomy, partial trisomy 1q, Chromosome Banding, "GENOTYPE PHENOTYPE CORRELATIONS", Phenotype, partial trisomy 1q; trisomy 1q42±q44; inverted duplications; deletion, Chromosomes, Human, Pair 1, Gene Duplication, Karyotyping, "INVERTED DUPLICATION", "TERMINAL DELETION", Humans, inverted duplications, Female, deletion, Chromosome Deletion, Child, In Situ Hybridization, Fluorescence, trisomy 1q42±q44
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