NDLI: Familial 4.8 MB deletion on 18q23 associated with growth hormone insufficiency and phenotypic variability.

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Familial 4.8 MB deletion on 18q23 associated with growth hormone insufficiency and phenotypic variability.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Margarit, Ester Morales, Carme Rodríguez-Revenga, Laia Monné, Raquel Badenas, Cèlia Soler, Anna Clusellas, Núria Mademont, Irene Sánchez, Aurora
Description	Country affiliation: Spain Author Affiliation: Margarit E ( Biochemistry and Molecular Genetics, Hospital Clínic, Barcelona, Spain. margarit@clinic.ub.es)
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-resolution analysis of the deletion, besides a detailed clinical assessment, has provided important data for phenotype-genotype correlation and genetic counseling in this family. Furthermore, this study adds valuable information for phenotype-genotype correlation in 18q- syndrome and might facilitate future search for candidate genes involved in each phenotypic trait.
File Format	HTM / HTML
ISSN	15524825
Issue Number	3
Volume Number	158A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2012-03-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Chromosome Deletion Chromosomes, Human, Pair 18 Growth Hormone Deficiency Body Height Genetics Child Comparative Genomic Hybridization Female Humans In Situ Hybridization, Fluorescence Karyotyping Phenotype Case Reports Journal Article Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

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