Distinct facial dysmorphisms, developmental delay, mental retardation, hypotonia, poor/absent speech, seizures, and cardiomyopathy

Research output: Contribution to journalArticle

Abstract

Monosomy 1p36 is a recently delineated condition, considered to be the most common terminal deletion syndrome. It is presumably caused by haplo insufficiency of a number of genes. 1p36 deletions deletions account for 0.5-1.2% of idiopathic mental retardation; therefore, knowledge about the disorder is of the utmost importance for pediatricians. The syndrome is characterized by a recognizable pattern of malformation, associated with consistent neurodevelopmental manifestations. The major medical problems are represented by cardiomyopathy of the "non-compaction" type, and by the infantile spasms. The deletion can be detected by high resolution karyotype in a minority of patients, and FISH and/or aCGH are required in most. Here, we alert pediatricians and make them aware of the existence of this recognizable pattern of human malformation, and propose healthcare indications for infants and children affected by the syndrome.

Original languageEnglish
Pages (from-to)250-253
Number of pages4
JournalItalian Journal of Pediatrics
Volume33
Issue number5
Publication statusPublished - Oct 2007

Keywords

  • Cardiomyopathy
  • Deletion 1p36 syndrome 1p- Syndrome
  • Hypotonia
  • Infantile spasms
  • Mental retardation
  • Monosomy 1p36 syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Fingerprint Dive into the research topics of 'Distinct facial dysmorphisms, developmental delay, mental retardation, hypotonia, poor/absent speech, seizures, and cardiomyopathy'. Together they form a unique fingerprint.

  • Cite this