Abstract
The t(11;22) (q23;q11) translocation is the most frequently identified familial reciprocal translocation in humans. In translocation carriers, 3:1 meiotic segregation with tertiary trisomy can occur resulting in abnormal progeny with the der(22) as the supernumary chromosome. Affected children have a distinct phenotype with multiple anomalies and severe mental retardation. We have identified a child with developmental delay and multiple anomalies consistent with the der(22) phenotype. Cytogenetic analysis showed an abnormal chromosome complement of 47,XX,+der(22)t(11;22)(q23; q11) in all 50 cells analysed. FISH analysis using chromosome 11 and 22 painting probes showed a pattern consistent with a reciprocal translocation of the distal bands 11q23 and 22q11 respectively. Parental karyotypes were normal. RFLP analysis of locus D22S43, which maps above the t(11;22) breakpoint, showed that the der(22) was paternal in origin and indicated that the normal chromosomes 22 were the probable result of maternal heterodisomy. RFLP analysis of locus D22S94, which maps below the t(11;22) breakpoint, also suggested that both normal chromosomes 22 of the child represented the two maternal homologues. Non-paternity was excluded through the anal...Continue Reading
References
Aug 1, 1991·Genomics·M L BudarfB S Emanuel
Jan 15, 1992·American Journal of Medical Genetics·I W Lurie, L V Podleschuk
Feb 1, 1992·Human Genetics·P SimiO Zuffardi
Nov 1, 1991·Genomics·J P DumanskiR White
Oct 1, 1990·American Journal of Medical Genetics·D Abeliovich, R Carmi
Jun 1, 1990·Human Genetics·R H Lindenbaum
May 25, 1988·Nucleic Acids Research·Y NakamuraR White
Oct 1, 1989·Human Genetics·D H LockwoodJ Allanson
Dec 10, 1987·Nucleic Acids Research·Y NakamuraR White
Jan 1, 1983·Human Genetics·L IseliusN Delendi
Apr 1, 1984·Clinical Genetics·R H Martin
Jan 1, 1980·Human Genetics·M FraccaroL Iselius
Jan 1, 1980·American Journal of Medical Genetics·E H Zackai, B S Emanuel
Jun 1, 1980·Clinical Genetics·C G PalmerM E Hodes
Feb 1, 1993·Prenatal Diagnosis·A SolerA Fortuny
Sep 1, 1960·Experimental Cell Research·P S MOORHEADD A HUNGERFORD
Citations
Dec 11, 1999·Prenatal Diagnosis·D BalmerA Schinzel
Aug 3, 2001·Journal of Medical Genetics·D Kotzot
Jun 16, 2011·The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society·Thomas LiehrMarina Manvelyan
Jun 5, 2012·Blood Cells, Molecules & Diseases·Yu-Hsiu HuangDau-Ming Niu
Feb 28, 2013·American Journal of Medical Genetics. Part a·Siv FokstuenDieter Kotzot
Dec 1, 1999·American Journal of Human Genetics·T H ShaikhB S Emanuel
May 22, 2013·Case Reports in Pediatrics·Madan Gopal ChoudharyVijay Sunil Reddy
Mar 10, 2012·Current Opinion in Genetics & Development·Takema KatoBeverly S Emanuel
Nov 29, 2002·American Journal of Medical Genetics·Anita S KulharyaDavid B Flannery
Jun 16, 2005·American Journal of Medical Genetics. Part a·Dieter Kotzot, Gerd Utermann
Jul 29, 2005·Prenatal Diagnosis·Vaidehi JobanputraDorothy Warburton
Jan 24, 2006·Human Mutation·Peng XiaoHong-Wen Deng
Jul 23, 1998·American Journal of Medical Genetics·J P ParkT K Mohandas