1p microdeletion in sibs with minimal phenotypic manifestations
| Autor: | Shibo Li, Wladimir Wertelecki, Cathy M. Tuck-Muller, William Gasparrini, Jose E. Martinez |
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| Rok vydání: | 1999 |
| Předmět: |
Genetics
Male Mutation Autosome Psychomotor retardation Adolescent media_common.quotation_subject Chromosome Biology medicine.disease_cause Phenotype Neglect Nuclear Family El Niño Chromosomes Human Pair 1 Chromosome Inversion medicine Humans medicine.symptom Chromosome Deletion Genetics (clinical) In Situ Hybridization Fluorescence media_common Chromosomal inversion |
| Zdroj: | American journal of medical genetics. 82(2) |
| ISSN: | 0148-7299 |
| Popis: | We report on two sibs with a paracentric in version of chromosome 1 [inv(1)(p22.3p34.1)] and a small deletion of the same chromosome (p34.1p34.3). They presented with learning disabilities and disturbed conduct but lacked the more severe manifestations usually associated with autosomal chromosome deletion. Born to an alcoholic mother and later placed in foster care because of abuse and neglect, the behavior abnormalities they present are likely to be associated with their traumatic postnatal experience. Microscopic deletions without significant morphological phenotypic expression have been described but are rarely reported. Most reported cases of interstitial deletion of 1p had associated malformations and psychomotor retardation. These sibs may represent the first evidence that deletion of 1p34.11p34.3 may have little impact on the phenotype. Am. J. Med. Genet. 82:107–109, 1999. © 1999 Wiley-Liss, Inc. |
| Databáze: | OpenAIRE |
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