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Familial 4.8 MB deletion on 18q23 associated with growth hormone insufficiency and phenotypic variability by Ester Margarit; Carme Morales; Laia Rodríguez-Revenga; Raquel Monné; Cèlia Badenas; Anna Soler; Núria Clusellas; Irene Mademont; Aurora Sánchez is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

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## Abstract The deletion of the long arm of chromosome 18 causes a contiguous gene deletion syndrome with a highly variable phenotype, usually related to the extent of the deleted region. The most commonly reported clinical features include: decreased growth, microcephaly, facial abnormalities, hypotonia, developmental delay, intellectual disability, congenital aural atresia with hearing impairment and limb anomalies. Here we report on a familial terminal deletion of 18q23 region transmitted from a mother to two daughters, resulting in a remarkable phenotypic variability. The deletion was first detected by conventional cytogenetic analysis in one daughter and subsequently characterized using fluorescence in situ hybridization (FISH) and array‐CGH. FISH analysis using subtelomeric 18p and 18q probes confirmed the 18qter deletion in the three patients, and FISH with a whole chromosome painting probe specific for chromosome 18 excluded rearrangements with other chromosomes. Array‐CGH analysis allowed us to precisely define the extent of the deletion, which spans 4.8 Mb from 71,236,891 to 76,093,303 genomic positions and includes __GALR1__ and __MBP__ genes, among others. High‐resoluti

Who reads Familial 4.8 MB deletion on 18q23 associated with growth hormone insufficiency and phenotypic variability?

Author

Ester Margarit; Carme Morales; Laia Rodríguez-Revenga; Raquel Monné; Cèlia Badenas; Anna Soler; Núria Clusellas; Irene Mademont; Aurora Sánchez

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 1552-4825)

Published

2012

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)