De novo Unbalanced 1;22 Translocation with 22q11 Deletion Syndrome

Cytogenetic and Genome Research
Spiros VittasVasiliki Soubasi

Abstract

This report describes a newborn girl presenting with some of the common features of DiGeorge syndrome/velocardiofacial syndrome (DGS/VCFS), including hypocalcemia, atrial septal defect, and aortic stenosis. Several genetic tests were carried out to determine the origin of the clinical phenotype. MLPA was initially performed followed by aCGH, cytogenetic analysis, and FISH. Cytogenetic analysis of the proband's parents was also done. MLPA revealed a deletion in 22q11.1q11.2 spanning from the cat eye syndrome region to the most commonly deleted region in DGS/VCFS patients. The size of the deletion as defined by aCGH was 3.2 Mb. The karyotype of the proband was 45,XX,der(1)t(1;22)(p36.3;q11.2)dn,-22, the karyotypes of the parents were normal. FISH analysis showed that the 22q11 deletion occurred in the der(1). No loss or gain of chromosomal material was evident for chromosome 1, as confirmed by MLPA, aCGH, and FISH. Unbalanced translocations resulting in DGS are relatively rare, with limited reports in the literature. To our knowledge, this is the second case involving chromosome 1 and the first one with breakpoints in 1p36 and 22q11.2. This case also emphasizes the importance of combining diagnostic methods to better understand a...Continue Reading

References

Aug 1, 1991·American Journal of Medical Genetics·J R LupskiF Greenberg
Feb 1, 1996·Cancer Genetics and Cytogenetics·J P ParkC H Rhodes
Sep 11, 1998·Journal of Medical Genetics·K DevriendtK Keymolen
Sep 4, 2003·Human Molecular Genetics·Manjunath A NimmakayaluBeverly S Emanuel
Nov 14, 2003·Human Molecular Genetics·Anthony L GotterBeverly S Emanuel
Oct 3, 2007·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Rena E Falk, Kari A Casas
Oct 16, 2010·American Journal of Medical Genetics. Part a·Munis DundarHakan Savli
Jan 5, 2011·Medicine·Donna M McDonald-McGinn, Kathleen E Sullivan
Feb 18, 2011·Hormone Research in Pædiatrics·Gerhard Binder
Mar 10, 2012·Current Opinion in Genetics & Development·Takema KatoBeverly S Emanuel
Aug 14, 2012·Nature·Matthew A DeardorffKatsuhiko Shirahige
Apr 4, 2013·Taiwanese Journal of Obstetrics & Gynecology·Chih-Ping ChenWayseen Wang
Apr 10, 2014·American Journal of Medical Genetics. Part a·Patricia G WheelerZunyan Dai
Mar 22, 2016·Molecular Syndromology·Anelisa Gollo DantasMaria Isabel Melaragno
Dec 14, 2016·The New England Journal of Medicine·Jennifer E PoseyJames R Lupski
Jan 14, 2018·European Journal of Human Genetics : EJHG·Shwetha RamachandrappaSahar Mansour

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22q11 Deletion Syndrome

22q11.2 deletion syndrome, also known as DiGeorge syndrome, is a congenital disorder caused by a partial deletion of chromosome 22. Symptoms include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and delayed development. Discover the latest research on this disease here.

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