Pallister-Killian syndrome. Case report

Pallister-Killian syndrome is a rare sporadic genetic disorder with a tissue-specific mosaic distribution of an additional isochromosome 12p [i(12p)]. Due to the low risk of recurrence, prenatal diagnosis of this syndrome is important for the genetic counseling. To report the first prenatal diagnosi...

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Published inGinecologia y obstetricia de Mexico Vol. 75; no. 7; pp. 412 - 418
Main Authors Ramírez Fernández, María Antonieta, García Cavazos, Ricardo, Sánchez Martínez, Héctor Fernando
Format Journal Article
LanguageSpanish
Published Mexico 01.07.2007
Subjects
Abnormalities, Multiple
Adult
Chromosome Aberrations
Face - abnormalities
Female
Humans
Intellectual Disability
Karyotyping
Syndrome
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Summary:Pallister-Killian syndrome is a rare sporadic genetic disorder with a tissue-specific mosaic distribution of an additional isochromosome 12p [i(12p)]. Due to the low risk of recurrence, prenatal diagnosis of this syndrome is important for the genetic counseling. To report the first prenatal diagnosis case of Pallister-Killian syndrome in Mexico (lethal neonatal presentation associated with hypoplastic left heart). We admitted to our hospital a third-trimester, 31-year-old-pregnant woman; the level II sonographic examination showed: polyhydramnios, micromelia, hypoplastic left heart and a fetal facial profile characterized by small nose, thin upper lip and protruding lower lip. We confirmed the diagnosis with cultured amniotic cells. Standard G banding techniques showed a male karyotype with an extra chromosome i(12p) in the 100% of metaphase cells: 47,XY, + i(12p).
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ISSN:0300-9041