title: A prenatally sonographically diagnosed conotruncal anomaly with mosaic type trisomy 21 and 22q11.2 microdeletion/DiGeorge syndrome.
abstract: A prenatally sonographically diagnosed conotruncal anomaly with mosaic type trisomy 21 and 22q11.2 microdeletion/DiGeorge syndrome: We report a prenatally sonographically diagnosed conotruncal and urogenital anomaly. Postnatally, the patient presented with seizures, hypocalcemia, hypoparathyroidism and thymic aplasia and diagnosed as DiGeorge syndrome. Echocardiography showed malalignment VSD, supravalvular pulmonary stenosis and overriding aorta. Chromosome and FISH studies showed the association of mosaic type trisomy 21 and 22q11.2 microdeletion. The present patient is the second case of mosaic type of Down syndrome associated with 22q11.2 microdeletion. In addition the patient also had clinical and laboratory features of DiGeorge syndrome.
authors.affiliation: Department of Clinical Genetics, Hacettepe University Faculty of Medicine, Ihsan Hospital, 06100, Sihhiye, Ankara, Turkey. sbalci@hacettepe.edu.tr
authors.forename: S
authors.initials: S
authors.lastname: Balci
authors.forename: F S
authors.initials: FS
authors.lastname: Altugan
authors.forename: D
authors.initials: D
authors.lastname: Alehan
authors.forename: E
authors.initials: E
authors.lastname: Aypar
authors.forename: V
authors.initials: V
authors.lastname: Baltaci
mesh_terms: D004062:DiGeorge Syndrome / Q000175:diagnosis; D004314:Down Syndrome / Q000175:diagnosis; D005260:Female; D006801:Humans; D007011:Hypoparathyroidism; D007223:Infant; D008423:Maternal Age; D009030:Mosaicism; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014421:Turkey