| Lethal Pallister-Killian syndrome: phenotypic similarity with Fryns syndrome. | |
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MedLine Citation:
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PMID: 7856644 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The Pallister-Killian syndrome is a sporadic multiple congenital anomaly syndrome characterized by "coarse" face, profound mental retardation, and epilepsy. Chromosomes of peripheral lymphocytes are usually normal, but tissue cultures show varying degrees of mosaicism for isochromosome 12p. In babies who die neonatally of severe malformations, including diaphragmatic hernia, and who also have a "coarse" face, acral hypoplasia, and other internal anomalies, Fryns syndrome is more likely to be suspected than Pallister-Killian syndrome, especially if karyotyping is unavailable or if peripheral lymphocytes have a normal chromosome constitution. An initial diagnosis of Fryns syndrome had to be modified in 3 successive newborn infants since chromosome analysis or in situ hybridization with a chromosome 12 probe on kidney tissue demonstrated the mosaic aneuploidy characteristic of Pallister-Killian syndrome. These 3 patients confirm that a similar pattern of malformations can be present in both conditions at birth. It consists of "coarse" face, acral hypoplasia, diaphragmatic hernia, and other defects. Newborn infants who present this phenotype, but lack a conclusively normal chromosome test, may not have Fryns syndrome. A diagnosis of Fryns syndrome should be made carefully to avoid the risk of inappropriate genetic counseling. |
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Authors:
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J I Rodríguez; I Garcia; J Alvarez; A Delicado; J Palacios |
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Publication Detail:
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Type: Case Reports; Comparative Study; Journal Article |
Journal Detail:
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Title: American journal of medical genetics Volume: 53 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1994 Nov |
Date Detail:
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Created Date: 1995-03-16 Completed Date: 1995-03-16 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 176-81 Citation Subset: IM |
Affiliation:
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Department of Pathology, La Paz Hospital, Madrid, Spain. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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diagnosis,
genetics* Aneuploidy Chromosomes, Human, Pair 12 Diagnosis, Differential Epilepsy / genetics Face / abnormalities Female Genes, Lethal Hernia, Diaphragmatic / genetics Humans In Situ Hybridization Infant, Newborn Limb Deformities, Congenital Male Mental Retardation / genetics Mosaicism Phenotype Syndrome |
| Comments/Corrections | |
Comment In:
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Am J Med Genet. 2001 Aug 15;102(3):306-7
[PMID:
11484214
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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