| Unusual mosaic trisomy 13 through 13/13 translocation and monosomy 13 with a small ring. | |
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MedLine Citation:
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PMID: 2288463 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Apparently the first patient with de novo mosaicism 46,XX,t(13q13q)/46,XX,-13,+r(13) is described. The two cell lines were present at a frequency of 34% and 66%, respectively. The infant survived for about three months. The prominent dysmorphic features were: birth-weight and head circumference below the 3rd centile, encephalocele, multiple skin tags of low set dysplastic ears, coloboma of the left iris, short upward slanting palpebral fissures, and prominent nasal root. An imperforate anus, recto-vaginal fistula, enlarged adrenals, missing/hypoplastic kidneys, and limb anomalies were also present. It is postulated that the ring is a secondary anomaly arising from the 13q13q translocation. |
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Authors:
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S M Jalal; J A Martin; T R Benjamin; M K Kukolich; J K Townsend-Parcham |
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Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: Annales de génétique Volume: 33 ISSN: 0003-3995 ISO Abbreviation: Ann. Genet. Publication Date: 1990 |
Date Detail:
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Created Date: 1991-03-28 Completed Date: 1991-03-28 Revised Date: 2005-11-16 |
Medline Journal Info:
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Nlm Unique ID: 0370562 Medline TA: Ann Genet Country: FRANCE |
Other Details:
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Languages: eng Pagination: 173-5 Citation Subset: IM |
Affiliation:
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Cytogenetics Laboratory, Mayo Clinic, Rochester, MN 55905. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Chromosome Aberrations / genetics* Chromosome Disorders Chromosomes, Human, Pair 13 / ultrastructure* Female Humans Infant, Newborn Monosomy* Mosaicism* Ring Chromosomes* Translocation, Genetic* Trisomy* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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