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510 Possible Causes for 22q, Syndrome

  • Autosomal Dominant Alport Syndrome

    Six markers from chromosome 22q yielded a LOD score 3.00. A maximum two-point LOD score of 7.02 was obtained with the marker D22S283 at a recombination fraction of 0.[] […] confirmed by father-to-son disease transmission, the associated haematological abnormalities, and haplotypes that segregated with the recently described locus at chromosome 22q[] CONCLUSIONS: The renal phenotype of autosomal dominant Alport syndrome was much milder than that of autosomal recessive Alport syndrome or X-linked Alport syndrome in men.[]

  • 22q11.2 Duplication Syndrome

    Early diagnosis of 22q deletion syndrome is the key to properly addressing all 180 issues which can be associated with the disorder.[] We also review the findings in 36 reported cases with the aim of delineating the phenotype of the 22q11.2 duplication syndrome.[] Both 22q11.2 deletion syndrome and 22q11.2 duplication syndrome are genetic mutations that take place on the twenty-second chromosome at the q11.2 gene.[]

  • DiGeorge Syndrome

    Children born with 22q deletion can have a wide range of features.[] […] is a common syndrome also known as DiGeorge syndrome and velocardiofacial syndrome.[] The 22q and You Center is part of the Division of Human Genetics.[]

  • Cat Eye Syndrome

    The abnormality of 22q was interpreted as a de novo tandem duplication of 22q11.1----q11.2.[] Cat eye syndrome is diagnosed using multimodal testing.[] […] congenital heart defect (total anomalous pulmonary venous return), unilateral absence of a kidney, and developmental delay with an apparent interstitial duplication of proximal 22q[]

  • Ring Chromosome 22

    Characteristics of cases with ring chromosome 22 and subtelomeric 22q deletion are reviewed.[] What is ring chromosome 22 syndrome? Ring chromosome 22 syndrome is a breakage at the ends of the chromosome that has fused together to form a ring.[] Abstract Cat eye syndrome (CES) is typically associated with a supernumerary bisatellited marker chromosome (inv dup 22pter-22q11.2) resulting in four copies of this region[]

  • Velocardiofacial Syndrome

    […] deletion can lead to a phenotype similar to VCFS and emphasizes the importance of searching for other karyotype abnormalities when a VCFS-like phenotype is present and a 22q[] Abstract Velocardiofacial syndrome, DiGeorge syndrome, and some other clinical syndromes have in common a high frequency of hemizygous deletions of chromosome 22q11.2.[] The 22q 11.2 deletion syndrome is recognized as one of the most common microdeletion syndromes.[]

  • Partial Trisomy 21

    Abstract This communication reports prenatal diagnosis of partial trisomy 21 resulting from balanced translocation (21q;22q) in a 36-year-old gravida 7, para 1 woman.[] Abstract A case of "atypical" Down Syndrome (DS), where the proposita did not exhibit all of the clinical features of DS and had de novo partial trisomy 21, was studied.[] G banding of each metaphase revealed partial trisomy 21, 46 XX der (21) t (21q;22q) complement ( Figure 1 ).[]

  • Emanuel Syndrome

    The 11q;22q translocation: a European collaborative analysis of 43 cases. Hum Genet. 1980;56(1):21-51.[] The 11q;22q translocation: a European collaborative analysis of 43 cases.[] What causes Emanuel Syndrome?[]

  • Monosomy for 22q11

    […] severe speech and language delay and autistic-like behavior, this phenotype may be a significant indication to consider the 22q13 deletion syndrome as a potential cause. 22q[] Additional material has been added both in terms of new syndromes and in updating information on existing syndromes.[] 22q.11.2 deletion syndrome, is a rare disorder that is caused by a deletion in chromosome 22 located specifically in the middle of the chromosome in the area referred to as[]

  • Ring Chromosome 22 Syndrome

    Characteristics of cases with ring chromosome 22 and subtelomeric 22q deletion are reviewed.[] Ongoing monitoring is encouraged to address any issues related to 22q as they develop.[] Suggested Reading 22q11.2 Microdeletion Syndrome (Velo-Cardio-Facial Syndrome, DiGeorge Syndrome, Shprintzen Syndrome).[]

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