Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly

Abstract About 20% of cases with 7q deletion syndrome is associated with holoprosencephaly (HPE), due to deletion of the Sonic Hedgehog ( SHH ) gene (mapping to 7q36). The occurrence of severe forms of holoprosencephaly is higher in cases of 7q deletion associated with partial trisomies involving di...

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Bibliographic Details
Published in:European journal of medical genetics 2008-11, Vol.51 (6), p.658-665
Main Authors: Ginocchio, Virginia M, De Brasi, Daniele, Genesio, Rita, Ciccone, Roberto, Gimelli, Stefania, Fimiani, Francesco, de Berardinis, Teresa, Nitsch, Lucio, Banfi, Sandro, Magli, Adriano, Della Casa, Roberto
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Biological and medical sciences
Chromosome 3
Chromosome 7
Chromosome aberrations
Chromosomes, Human, Pair 3
Classical genetics, quantitative genetics, hybrids
Eye Abnormalities - genetics
Fundamental and applied biological sciences. Psychology
Gene Deletion
General aspects. Genetic counseling
Genetics of eukaryotes. Biological and molecular evolution
Hedgehog Proteins - genetics
Holoprosencephaly
Holoprosencephaly - genetics
Human
Humans
Infant, Newborn
Karyotyping
Male
Malformations of the eye
Medical Education
Medical genetics
Medical sciences
Microcephaly - genetics
Microphthalmia
Ophthalmology
SHH
Trisomy
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Summary:Abstract About 20% of cases with 7q deletion syndrome is associated with holoprosencephaly (HPE), due to deletion of the Sonic Hedgehog ( SHH ) gene (mapping to 7q36). The occurrence of severe forms of holoprosencephaly is higher in cases of 7q deletion associated with partial trisomies involving different parts of the genomes than in patients with pure 7q deletion. All cases of 7q deletion associated with 3p duplication reported to date have been associated with severe forms of holoprosencephaly, and a gene(s) on distal 3p has (have) been hypothesized to be responsible for HPE phenotype when in triple dose. Here we describe a patient with unbalanced 3p;7q translocation, showing 7q deletion (including SHH gene) and 3p duplication (complete karyotype was 46,XY,der(7)t(3;7)(p26.3;q36.1)), presenting with a relatively mild phenotype, consisting of microphthalmia and microcephaly, without cerebral anomalies typical of holoprosencephaly. Possible involvement of some genes on 3p in determining such a mild phenotype is discussed.
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2008.07.011