NDLI: Microdeletion syndrome 16p11.2-p12.2: clinical and molecular characterization.

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Microdeletion syndrome 16p11.2-p12.2: clinical and molecular characterization.

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Microdeletion syndrome 16p11.2-p12.2: clinical and molecular characterization.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Hempel, Maja Rivera Brugués, Nuria Wagenstaller, Janine Lederer, Gaby Weitensteiner, Andrea Seidel, Heide Meitinger, Thomas Strom, Tim M.
Description	Country affiliation: Germany Author Affiliation: Hempel M ( Institute of Human Genetics, Technische Universität München, Munich, Germany.)
Abstract	The pericentromeric region on 16p appears to be susceptible to chromosomal rearrangements and several patients with rearrangements in this region have been described. We report on a further patient with a microdeletion 16p11.2-p12.2 in the context of described patients with a deletion in the pericentromeric region of 16p. Minor facial anomalies, feeding difficulties, significant delay in speech development, and recurrent ear infections are common symptoms of the microdeletion syndrome 16p11.2-p12.2. All reported patients so far share a common distal breakpoint at 16p12.2 but vary in the proximal breakpoint at 16p11.2. The microdeletion 16p11.2-p12.2 should be distinguished from the approximately 500 kb microdeletion in 16p11.2 which seems to be associated with autism but not with facial manifestations, feeding difficulties, or developmental delay.
File Format	HTM / HTML
ISSN	15524825
Issue Number	10
Volume Number	149A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2009-10-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Abnormalities, Multiple Genetics Chromosome Deletion Chromosomes, Human, Pair 16 Language Development Disorders Otitis Adolescent Follow-up Studies Humans Male Complications Syndrome 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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