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16p13.11 microdeletions - Unique
The hypotonia can also affect their food passage and contribute to gastro-oesophageal (GO) reflux (in which feeds return readily up the food passage). GO reflux has been described in two children. GO reflux can generally be well controlled by giving feeds slowly, positioning a baby semi-upright for feeds and where necessary raising the head of
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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.
Balanced Translocations - Unique
www.rarechromo.orgWhat 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 ...
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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