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Syndrome

Syndrome Title:

Pallister-Killian

Syndrome Description:

Syndrome of mental retardation, post-natal growth deficiency and dysmorphic facies. Diaphragmatic hernia has been noted in the condition. Skeletal anomalies include short fingers and limbs and vertebral anomalies.

Syndrome Transmission:

Chromosome imbalance (isochromosome 12p syndrome)


References


Tissue-specific mosaicism among fetuses with prenatally diagnosed diaphragmatic hernia
Donnenfeld AE, Campbell TJ, Byers J, et al
Am J Obstet Gynecol 169:1017-1021 Published: 1993

Pallister-Killian -mosaic tetrasomy 12p syndrome. Another prenatally diagnosed case
Bresson JL, Arbez-Gindre F, Peltie J, Gouget A
Prenat Diagn 11:271-275 Published: 1991

Prenatal diagnosis of tetrasomy 12p by in situ hybridization: varying levels of mosaicism in different fetal tissues
Blancato JK, Hunt M, George J, et al
Prenat Diagn 12:979-983 Published: 1992