Inv dup del (1)(pter?q44::q44?q42:) with the classical phenotype of trisomy 1q42-qter
- 25 September 2001
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 104 (2) , 127-130
- https://doi.org/10.1002/ajmg.1589
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)(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.Keywords
This publication has 13 references indexed in Scilit:
- Monosomy and trisomy 1q44-qter in two sisters originating from a half cryptic 1q;15p translocationJournal of Medical Genetics, 2000
- Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2qEuropean Journal of Human Genetics, 2000
- The common features of patients with partial trisomy of the long arm of chromosome 1Clinical Genetics, 1998
- Partial trisomy 1(q42-->qter): a new case with a mild phenotype.Journal of Medical Genetics, 1998
- Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X)(pter→q24::q21.32→qter) and random X inactivationAmerican Journal of Medical Genetics, 1997
- A complete set of human telomeric probes and their clinical applicationNature Genetics, 1996
- Dup(lq)(q42→qter) syndrome: Case report and review of literatureAmerican Journal of Medical Genetics, 1993
- Duplication of the distal part of the long arm of chromosome 1American Journal of Medical Genetics, 1991
- Trisomy (1q) (q42→qter): confirmation of a syndromeClinical Genetics, 1988
- Duplication of part of chromosome 1q: Clinical report and review of literatureAmerican Journal of Medical Genetics, 1984