A locus for isolated cleft palate, located on human chromosome 2q32

Article Abstract:

Isolated cleft palate has been mapped to a small region on human chromosome 2q32, and two translocation breakpoints close to one another will allow for rapid positional cloning progress. Two unrelated patients with extremely similar clinical features were studied and for all cases in the human cytogenetics database of nonmosaic single contiguous autosomal deletions associated with orofacial clefting a detailed statistical analysis was carried out.

United Kingdom, Scotland, Statistical Data Included, Usage, Information services, Cleft palate, Human cytogenetics

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A chromosomal deletion map of human malformations

Article Abstract:

Research has yielded discoveries of autosomal deletions for 47 separate congenital malformations. These malformations are the primary cause of incidents of pediatric mortality and morbidity, and manifest as mental retardation and growth failure. Band distributions of deletions have been linked with specific malformations, which can facilitate identifying genes crucial to development.

United States, Medical genetics

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A chromosomal duplication map of malformations: regions of suspected haplo- and triplolethality - and tolerance of segmental aneuploidy - in humans

Article Abstract:

A map has been created of autosomal duplications associated with human congenital malformations. A total of 143 chromosomal regions associated with malformations were identified. Eight bands are potentially triplolethal, as they are not involved in any duplication. Thirty-one bands have been identified as potentially haplolethal, as they are not involved in any deletion.

Chromosome abnormalities, Lethal mutation

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