22q11.2 syndrome due to maternal translocation t(18;22) (pl1.2;q11.2).

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Nur B., Cetın Z., Clark Ö., Mıhçı E., Oygür N., Karaüzüm S.

Genetic counseling (Geneva, Switzerland), cilt.26, sa.1, ss.67-75, 2015 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 26 Sayı: 1
  • Basım Tarihi: 2015
  • Dergi Adı: Genetic counseling (Geneva, Switzerland)
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED)
  • Sayfa Sayıları: ss.67-75
  • Anahtar Kelimeler: DiGeorge syndrome, Tertiary monosomy 22q, Tertiary monosomy 18p, Fluorescence in situ hybridization, IN-SITU HYBRIDIZATION, DIGEORGE-SYNDROME, MEIOTIC SEGREGATION, DELETION, CHROMOSOME-22, MONOSOMY, CARRIERS
  • Akdeniz Üniversitesi Adresli: Evet

Özet

22q11.2 syndrome due to maternal translocation t(18;22) (p11.2;q11.2): 22q11.2 deletion syndrome is a pattern of malformations resulting from abnormalities during cephalic neural crest migration and during the development of the third and fourth branchial arch. It is also known as DiGeorge syndrome, as it is most often associated with a de novo 3 Mb hemizygous 22q11.2 deletion. The recognition of similarities and phenotypic overlap between DiGeorge syndrome and other disorders associated with genetic defects in 22q11 has led to an expanded description of the phenotypic features of this syndrome. Indeed, the extent of this phenotypic variability can often make it difficult to accurately diagnose DiGeorge syndrome.