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

@article{Nur201522q112SD,
  title={22q11.2 syndrome due to maternal translocation t(18;22) (pl1.2;q11.2).},
  author={Banu G{\"u}zel Nur and Zafer Çetin and Ozden Altiok Clark and Ercan Mihçi and Nihal Oygur and Sibel Berker Karauzum},
  journal={Genetic counseling},
  year={2015},
  volume={26 1},
  pages={67-75}
}
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… CONTINUE READING

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In this report , we present a female infant with dysmorphic facial features , microcephaly , a cleft palate , unilateral membranous choanal atresia , convulsions , hypocalcemia , semilobar holoporencephaly and echocardiographic abnormalities .
In this report , we present a female infant with dysmorphic facial features , microcephaly , a cleft palate , unilateral membranous choanal atresia , convulsions , hypocalcemia , semilobar holoporencephaly and echocardiographic abnormalities .
In this report , we present a female infant with dysmorphic facial features , microcephaly , a cleft palate , unilateral membranous choanal atresia , convulsions , hypocalcemia , semilobar holoporencephaly and echocardiographic abnormalities .
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