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22q13.3 Deletion Syndrome

Known as: PHELAN-MCDERMID SYNDROME, Telomeric 22q13 Monosomy Syndrome, Deletion 22q13 Syndrome 
National Institutes of Health

Related topics

Related topics

16 relations
Aggressive behaviorBlepharoptosisGlobal developmental delayLong narrow head

Broader (3)

Chromosome DeletionChromosomes, Human, Pair 22Congenital chromosomal disease

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
sp3-Bonded silicon allotropes based on the Kelvin problem.
The Kelvin problem, how to partition three-dimensional space into cells of equal volume with minimal area, is a fascinating one… 
2011
2011
A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan–McDermid syndrome and hypergonadotropic hypogonadism
Chromosome 22q13 monosomy has been described as a contiguous gene syndrome. Localized in the critical region, SHANK3 is likely to… 
2010
2010
A de novo 7.9 Mb deletion in 22q13.2→qter in a boy with autistic features, epilepsy, developmental delay, atopic dermatitis and abnormal immunological findings.
2009
2009
Fulminant autoimmune hepatitis in a girl with 22q13 deletion syndrome: a previously unreported association
We report a 7-year-old girl with 22q13 deletion syndrome, 46,XX,Ish del(22)(q13.3)(ARSA-; D22S1726), who developed a fulminant… 
2005
2005
Two brothers with 22q13 deletion syndrome and features suggestive of the Clark–Baraitser syndrome
We report on two brothers with moderate-to-severe mental retardation, severe macrocephaly, obesity, characteristic face, big… 
Review
2004
Review
2004
22q13 Deletion Syndrome: An Update and Review for the Primary Pediatrician
Recent advances in genetic testing can help to provide a specific diagnosis to children born with syndromes that result in… 
2004
2004
22q13 deletion syndrome with central diabetes insipidus: a previously unreported association.
We describe a two-year-old girl with 22q13 deletion syndrome (MIM # 606232), 46, XX, de l (22) (q13.31). ish del (22) (q13.31… 
2000
2000
Cryptic subtelomeric translocations in the 22q13 deletion syndrome
Cryptic subtelomeric rearrangements are suspected to underlie a substantial portion of terminal chromosomal deletions. We have… 
1997
1997
A COMPARISON OF WIND TUNNEL AND CFD METHODS APPLIED TO NATURAL VENTILATION DESIGN
The design of a naturally ventilated atrium was assessed using both wind tunnel and CFD methods to appraise and modify the… 
1996
1996
Comparing the Weaire-phelan Equal-volume Foam To
The problem of partitioning space into equal-volume cells, using the least interface area, was considered in 1887 by Sir William… 
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