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Title: Lethal pallister-killian syndrome: Phenotypic similarity with fryns syndrome

Abstract

The Pallister-Killian syndrome is a sporadic multiple congenital anomaly syndrome characterized by {open_quotes}coarse{close_quotes} 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 {open_quotes}coarse{close_quotes} 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 lumphocytes 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 {open_quotes}coarse{close_quotes} 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. 31 refs., 10 figs., 1 tab.

Authors:
; ; ; ;  [1]
  1. La Paz Hospital, Madrid (Spain)
Publication Date:
Sponsoring Org.:
USDOE
OSTI Identifier:
61987
Resource Type:
Journal Article
Resource Relation:
Journal Name: American Journal of Medical Genetics; Journal Volume: 53; Journal Issue: 2; Other Information: PBD: 1 Nov 1994
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; HUMAN CHROMOSOME 12; CHROMOSOMAL ABERRATIONS; MOSAICISM; ANEUPLOIDY; HUMAN POPULATIONS; HEREDITARY DISEASES; CONGENITAL MALFORMATIONS; MENTAL DISORDERS; DNA HYBRIDIZATION; PHENOTYPE; KARYOTYPE; BANDING TECHNIQUES

Citation Formats

Ignacio Rodriquez, J., Garcia, I., Alvarez, J., Delicado, A., and Palacios, J.. Lethal pallister-killian syndrome: Phenotypic similarity with fryns syndrome. United States: N. p., 1994. Web. doi:10.1002/ajmg.1320530211.
Ignacio Rodriquez, J., Garcia, I., Alvarez, J., Delicado, A., & Palacios, J.. Lethal pallister-killian syndrome: Phenotypic similarity with fryns syndrome. United States. doi:10.1002/ajmg.1320530211.
Ignacio Rodriquez, J., Garcia, I., Alvarez, J., Delicado, A., and Palacios, J.. Tue . "Lethal pallister-killian syndrome: Phenotypic similarity with fryns syndrome". United States. doi:10.1002/ajmg.1320530211.
@article{osti_61987,
title = {Lethal pallister-killian syndrome: Phenotypic similarity with fryns syndrome},
author = {Ignacio Rodriquez, J. and Garcia, I. and Alvarez, J. and Delicado, A. and Palacios, J.},
abstractNote = {The Pallister-Killian syndrome is a sporadic multiple congenital anomaly syndrome characterized by {open_quotes}coarse{close_quotes} 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 {open_quotes}coarse{close_quotes} 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 lumphocytes 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 {open_quotes}coarse{close_quotes} 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. 31 refs., 10 figs., 1 tab.},
doi = {10.1002/ajmg.1320530211},
journal = {American Journal of Medical Genetics},
number = 2,
volume = 53,
place = {United States},
year = {Tue Nov 01 00:00:00 EST 1994},
month = {Tue Nov 01 00:00:00 EST 1994}
}