NDLI: Further characterization of the new microdeletion syndrome of 16p11.2-p12.2.

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Further characterization of the new microdeletion syndrome of 16p11.2-p12.2.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Battaglia, Agatino Novelli, Antonio Bernardini, Laura Igliozzi, Roberta Parrini, Barbara
Description	Country affiliation: Italy Author Affiliation: Battaglia A ( Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry, Pisa, Italy. abattaglia@inpe.unipi.it)
Abstract	Using aCGH, we have identified a pericentromeric deletion, spanning about 8.2 Mb, within 16p11.2-p12.2 in a patient with developmental delay (DD) and dysmorphic features. This deletion arose de novo and is flanked by segmental duplications. The proposita was the only child of healthy nonconsanguineous parents, born after an uneventful pregnancy, at 40 weeks gestation, by normal delivery. She was referred to us at age 3 10/12 years for evaluation of DD and absent speech. On examination, there were a flat face; low-set, posteriorly rotated ears; high-arched palate; hypotonic face; right single palmar crease; long, thin fingers; and a sacral dimple. Her height was at the 50th centile, weight at the 25th, and OFC at the 30th. Results of DNA FraX, HRB chromosomes, metabolic work-up, audiologic evaluation, brain MRI, electroencephalogram, and heart/abdomen ultrasonography were normal. When last seen, aged 8 years, she had a moderate intellectual disability (ID) and poor speech. She was hyperactive with short attention span and difficulty in concentration, but, based on formal testing, did not have autism. Our patient shows common clinical features to the four individuals described by Ballif et al. [Ballif et al. (2007); Nat Genet 39:1071-1073], and further characterizes the new microdeletion syndrome of 16p11.2-p12.2. aCGH suggests that the deletions of all cases share the same distal breakpoint. Of note, the proximal breakpoint of our proposita overlaps the distal breakpoint of the autistic patients studied by Kumar et al. [Kumar et al. (2008); Hum Mol Genet 17:628-638] and Weiss et al. [Weiss et al. (2008); N Eng J Med 358:667-675], confirming that the 16p region carrying susceptibility to autism is more centromeric. Our observation further defines two different, contiguous 16p genomic regions, responsible for a distinct MCA/ID syndrome, and for autism, respectively.
File Format	HTM / HTML
ISSN	15524825
Issue Number	6
Volume Number	149A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2009-06-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Abnormalities, Multiple Chromosome Deletion Chromosomes, Human, Pair 16 Child Chromosome Aberrations Chromosome Breakage Chromosomes, Artificial, Bacterial Developmental Disabilities Female Genetic Predisposition To Disease Humans Hyperkinesis In Situ Hybridization, Fluorescence Intellectual Disability Language Disorders Motor Skills Disorders Muscle Hypotonia Nucleic Acid Hybridization Methods Otitis Syndrome Case Reports Journal Article
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

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