Paula and Bobby
Parents of Lillie
Chromosome 11q25 - microdeletion
What is Chromosome 11q25 - microdeletion?
Chromosome 11q25 - microdeletion is a rare disease. It is also known as Jacobsen syndrome.
*Abstract prepared by Dr Bert De Vries - Nijmegen*
The distal 11q deletion or Jacobsen syndrome is caused by a microscopically visible deletion of the chromosomal bands 11q23, q24 and/or q25. Commonly observed features of this syndrome included mild to moderate mental retardation, postnatal growth retardation, trigonocephaly, facial dysmorphism (hypertelorism, epicanthus, ptosis, upward stanting palpebral fissures, short nose/long philtrum, retrognathia, high arched palate), cardiac defects, digit/hand/foot anomalies and thrombocytopenia/pancytopenia. Many patients with a terminal 11q deletion have thrombocytopenia or pancytopenia and this seems to be related to the absence of band 11q24. Deletions distal to 11q24.1 do not produce the typical 11q- syndrome (Leegte et al., 1999). Chromosome band 11q23 is probably associated with craniosynostosis and cardiac defects whereas bands 11q24 and 11q25 are associated with the facial dysmorphism and the thrombocytopenia (Penny et al., 1995). Terminal deletions extending proximal to 11q23.3 are probably lethal.
Recently, we saw a newborn boy with a congenital heart defect and thrombocytopenia. Routine karyotyping was normal. Because of the clinical features, FISH with a subtelomeric 11q probe was performed and revealed a de novo deletion. A cryptic 11q;18q translocation that resulted in two cousins with a deletion 11q and with a deletion 18q was described by Schultz et al., (2001). The break in chromosome 11 was within the subtelomeric region (a 11q subtelomeric probe hybridised on both translocation chromosomes). An adult woman with the derivative chromosome 11 had mild mental retardation, short stature and no dysmorphic features. Bipolar affective disorder has been reported (Bohm et al., 2006).
Clarkson et al., (2002) reported an 18 year-old woman with an 11q24.3->11qter deletion and a duplication of 11p15.5->11pter due to a paternal pericentric inversion. She had features reminiscent of Jacobsen syndrome and a head circumference at the 97th centile consistent with Beckwith-Wiedemann. . Zahn et al., (2005) reported two cases with a familial cryptic 11q;16q translocation. A patient with a transverse terminal limb defect (possibly related to a hemorrhagic episode in fetal life) was reported by Fujita et al., (2010). A patient with mild features (speech delay, thrombocytopenia) had an 11q24.1-11qter (Manolakos et al., 2009).
* This information is courtesy of the L M D.
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What gene changes cause Chromosome 11q25 - microdeletion?
The syndrome is inherited in the following inheritance pattern/s:
Microdeletion - Microdeletion inheritance occurs when there is a deletion of several genes on a chromosome. The specific chromosome on which the deletions occur will determine the syndrome they cause.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Chromosome 11q25 - microdeletion?
The typical symptoms of the syndrome are:
How does someone get tested for Chromosome 11q25 - microdeletion?
The initial testing for Chromosome 11q25 - microdeletion can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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