X-linked dominant inherited diseases with lethality in hemizygous males.

Abstract

X-linked dominant inheritance with lethality in hemizygous males is a rare mode of inheritance. The three best-known disorders which seem to be inherited in this way, are incontinentia pigmenti (IP) Bloch-Sulzberger, oral-facial-digital I (OFD I) syndrome, and focal dermal hypoplasia (FDH syndrome, Goltz syndrome). It is the purpose of this article to give a review of the clinical and genetic aspects of the above-mentioned diseases and to add those disorders in which this mode of inheritance is discussed. These disorders are: X-linked chondrodysplasia punctata (CP), cervico-oculo-acusticus syndrome (Wildervanck syndrome, COA), congenital cataract with microcornea or slight microphthalmia, muscular dystrophy--hemizygous lethal, partial lipodystrophy with lipatrophic diabetes and hyperlipidemia, Aicardi syndrome, coxo-auricular syndrome, and Johanson-Blizzard syndrome. OTC deficiency is included in the study, although there is no lethality in utero, only in the neonatal period. A critical evaluation of the current literature is carried out.

• Authors: R Wettke-Schäfer, G Kantner
• Journal: Human genetics (Hum Genet) Vol. 64 Issue 1 Pg. 1-23 ( 1983) ISSN: 0340-6717 [Print] Germany
• PMID: 6873941 (Publication Type: Journal Article)

Topics

• Abnormalities, Multiple (genetics, mortality, pathology)
• Amino Acid Metabolism, Inborn Errors (genetics, mortality, pathology)
• Aneuploidy
• Child
• Female
• Genes, Dominant
• Genetic Counseling
• Genetic Diseases, Inborn (genetics, mortality, pathology)
• Humans
• Infant
• Infant, Newborn
• Male
• Nevus, Pigmented (genetics, mortality, pathology)
• Ornithine Carbamoyltransferase Deficiency Disease
• Orofaciodigital Syndromes (genetics, mortality, pathology)
• Pedigree
• Pigmentation Disorders (genetics, mortality, pathology)
• Sex Chromosome Aberrations (genetics, mortality, pathology)
• Skin Diseases (genetics, mortality, pathology)
• Syndrome
• X Chromosome