A detailed investigation of two cases exhibiting characteristics of the 6p deletion syndrome

Deletions of the short arm of chromosome 6 are relatively rare, only 16 cases having been described in the literature so far. Here we present a detailed investigation by fluorescence in situ hybridisation of two further cases with different but overlapping interstitial deletions involving 6p22, 6p23...

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Bibliographic Details
Published in:Human genetics 1996-10, Vol.98 (4), p.454-459
Main Authors: Davies, A F, Olavesen, M G, Stephens, R J, Davidson, R, Delneste, D, Van Regemorter, N, Vamos, E, Flinter, F, Abusaad, I, Ragoussis, J
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Adolescent
Chromosome Banding
Chromosome Deletion
Chromosome Mapping
Chromosomes, Artificial, Yeast
Chromosomes, Human, Pair 6
Female
Genetic Diseases, Inborn - genetics
Humans
In Situ Hybridization, Fluorescence
Infant, Newborn
Intellectual Disability - genetics
Karyotyping
Male
Syndrome
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Summary:Deletions of the short arm of chromosome 6 are relatively rare, only 16 cases having been described in the literature so far. Here we present a detailed investigation by fluorescence in situ hybridisation of two further cases with different but overlapping interstitial deletions involving 6p22, 6p23 and 6p24. The main features involved are craniofacial malformations, heart and kidney defects, mental retardation/developmental delay, hypotonia and hydrocephalus. By using 36 yeast artificial chromosome and cosmid clones from a contig covering 6p22.3-6p25 and other probes with defined cytogenetic locations within 6p21-6p22 we have precisely localised the breakpoints involved in each of the cases, estimated the sizes of the deleted regions and defined the region that is hemizygously deleted in both cases.
ISSN:0340-6717
1432-1203
DOI:10.1007/s004390050239