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22q13.33

A chromosome band present on 22q
National Institutes of Health

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22qARSA wt AlleleChromosomesMAPK11 wt Allele

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2016
Review
2016
Genotype‐phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature
This article reports a patient with a de novo ∼9.32 Mb duplication at 16p13.3 and a ∼71 Kb deletion at 22q13.33. The patient was… 
2016
2016
Concomitant 11p15.4‐p15.5 duplication and terminal 22q13.33 deletion in a patient with features of Beckwith–Wiedemann syndrome
Concomitant 11p15.4-p15.5 Duplication and Terminal 22q13.33 Deletion in a Patient with Features of Beckwith–Wiedemann Syndrome… 
2016
2016
A rare case of trisomy 11q23.3-11q25 and trisomy 22q11.1-22q11.21.
Partial duplication of the long arm of chromosome 11 and the partial trisomy of 22q are uncommon karyotypic abnormalities. Here… 
2013
2013
Genome-wide Linkage and Regional Association Study of Obesity-related Phenotypes: The GenSalt study
To identify chromosomal regions harboring quantitative trait loci for waist circumference (WC) and body mass index (BMI). 
2012
2012
Dextrocardia, atrial septal defect, severe developmental delay, facial anomalies, and supernumerary ribs in a child with a complex unbalanced 8;22 translocation including partial 8p duplication
We report on a child with dextrocardia, atrial septal defect (ASD), severe developmental delay, hypotonia, 13 pairs of ribs, left… 
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… 
2011
2011
[Multiplex Ligation - dependent Probe Amplification (MLPA) as a screening test in children with developmental defects and intellectual disability of unknown etiology].
UNLABELLED Developmental delay and intellectual disability are significant medical and social problems which concern 1-3% of… 
2010
2010
[A study of subtelomeric rearrangements in 300 patients with mental retardation and multiple congenital anomalies: their clinical and molecular characterisation].
INTRODUCTION The study of mental retardation is one of the most complex fields in human genetics due to its high degree of… 
2008
2008
A 21 years follow-up of a girl patient with a pseudodicentric bisatellited chromosome 22 associated with partial trisomy 22pter-->22q12.1: clinical, cytogenetic and molecular observations.
2002
2002
No missense mutation of WKL1 in a subgroup of probands with schizophrenia
Recently, a Leu309Met mutation in WKL1 (MLC1, KIAA0027), a gene mapped to chromosome 22q13.33, was reported to co-segregate with… 
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