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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Veröffentlicht in:	Ginecologia y obstetricia de Mexico 2007-07, Vol.75 (7), p.412-418
Hauptverfasser:	Ramírez Fernández, María Antonieta, García Cavazos, Ricardo, Sánchez Martínez, Héctor Fernando
Format:	Artikel
Sprache:	spa
Schlagworte:	Abnormalities, Multiple Adult Chromosome Aberrations Face - abnormalities Female Humans Intellectual Disability Karyotyping Syndrome
Online-Zugang:	Volltext
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