A case of omphalocele with hypotonia and psychomotor retardation

D. Erba; Luca Romano; R. Casciaro

A case of omphalocele with hypotonia and psychomotor retardation

D. Erba, Luca Romano, R. Casciaro

Istituto "Giannina Gaslini"

Research output: Contribution to journal › Article › peer-review

Abstract

Pallister-Killian syndrome is a dysmorphic condition characterized by tissue-limited mosaicism; most fibroblast have 47 chromosomes with an extra small metacentric chromosome, whereas the karyotype of lymphocytes is normal. Clinical presentation of PKS includes profound mental retardation, seizures and facial abnormalities. The mechanism and parental origin of extra chromosome i(12)(p10) are unknown.

Original language	English
Pages (from-to)	99-101
Number of pages	3
Journal	Italian Journal of Pediatrics
Volume	29
Issue number	2
Publication status	Published - Apr 2003

Keywords

Facial abnormalities
Mosaicism
Profound mental retardation
Seizures

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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abstract = "Pallister-Killian syndrome is a dysmorphic condition characterized by tissue-limited mosaicism; most fibroblast have 47 chromosomes with an extra small metacentric chromosome, whereas the karyotype of lymphocytes is normal. Clinical presentation of PKS includes profound mental retardation, seizures and facial abnormalities. The mechanism and parental origin of extra chromosome i(12)(p10) are unknown.",

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KW - Seizures

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A case of omphalocele with hypotonia and psychomotor retardation

Abstract

Keywords

ASJC Scopus subject areas

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