Balanced Translocations - Unique
What is a balanced translocation? Our bodies are made of billions of cells. In each cell is a set of structures called chromosomes that carry all of the instructions (genes) for the cell to function. ... They are not caused by men’s lifestyle, environment or work. On the left are two pairs of normal chromosomes. The ends of two chromosomes ...
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CHILDREN WITH 4q-SYNDROME: THE PARENTS’ …
www.rarechromo.org189 GeneTIC CoUnseLInG, Vol. 18, no 2, 2007, pp 189-199 E.M. StrEhlE Et al., 4q- syndrome CHILDREN WITH 4q-SYNDROME: THE PARENTS’ PERSPECTIVE BY E.M. STREHLE AND P.M. MIDDLEMISS
Robertsonian Translocations FTNW - Unique
www.rarechromo.orgPrader-Willi syndrome , including overweight, short stature and learning difficulties. When the corrected chromosome is 15 and the baby inherits two chromosome 15s from the father, the baby will have typical features of Angelman syndrome , including epilepsy, severe learning difficulties, an unsteady walk and a happy disposition.
16p13.11 microdeletions - Unique
www.rarechromo.orgchromosome are said to have a deletion but when the amount is so small that it can’t be seen even under a high-powered microscope, it is called a microdeletion. The 16p13.11 microdeletion can be found using molecular techniques such as array comparative genomic hybridisation (array CGH). This technique shows whether
also called Trisomy X - Unique
www.rarechromo.org45,X/47,XXX - This is essentially a mosaic form of Turner syndrome (TS), although the presence of cells with an extra X chromosome will generally moderate the TS features, especially if the ratio of 47,XXX cells to 45,X cells is high 47,XXX/48,XXXX Generally speaking, a girl or woman with this chromosome make-up will
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