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Lethal Pallister-Killian syndrome: phenotypic similarity with Fryns syndrome.
Am J Med Genet. 1994 Nov 01; 53(2):176-81.AJ

Abstract

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.

Authors+Show Affiliations

Department of Pathology, La Paz Hospital, Madrid, Spain.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Comparative Study
Journal Article

Language

eng

PubMed ID

7856644

Citation

Rodríguez, J I., et al. "Lethal Pallister-Killian Syndrome: Phenotypic Similarity With Fryns Syndrome." American Journal of Medical Genetics, vol. 53, no. 2, 1994, pp. 176-81.
Rodríguez JI, Garcia I, Alvarez J, et al. Lethal Pallister-Killian syndrome: phenotypic similarity with Fryns syndrome. Am J Med Genet. 1994;53(2):176-81.
Rodríguez, J. I., Garcia, I., Alvarez, J., Delicado, A., & Palacios, J. (1994). Lethal Pallister-Killian syndrome: phenotypic similarity with Fryns syndrome. American Journal of Medical Genetics, 53(2), 176-81.
Rodríguez JI, et al. Lethal Pallister-Killian Syndrome: Phenotypic Similarity With Fryns Syndrome. Am J Med Genet. 1994 Nov 1;53(2):176-81. PubMed PMID: 7856644.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Lethal Pallister-Killian syndrome: phenotypic similarity with Fryns syndrome. AU - Rodríguez,J I, AU - Garcia,I, AU - Alvarez,J, AU - Delicado,A, AU - Palacios,J, PY - 1994/11/1/pubmed PY - 1994/11/1/medline PY - 1994/11/1/entrez SP - 176 EP - 81 JF - American journal of medical genetics JO - Am J Med Genet VL - 53 IS - 2 N2 - 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. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/7856644/Lethal_Pallister_Killian_syndrome:_phenotypic_similarity_with_Fryns_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1994&volume=53&issue=2&spage=176 DB - PRIME DP - Unbound Medicine ER -