Diseases of the Cell Assignment:
Heart-Hand syndrome & X-linked Adrenoleukodystrophy
Heart-Hand Syndrome is also known as Holt-Oram Syndrome, where individuals are born with skeletal abnormalities of hand and arms (upper limbs) and heart problems due to the mutation of HOS1into the TBX gene. TBX gene plays a role in controlling growth of bone in the hand and arm. Also, TBX is present in chromosome 12. The symptoms include: missing thumbs, long thumb that looks a like a finger, partial or complete absences of bones in the forearm, undeveloped bone of the upper arm, abnormities of the collarbone or shoulder blades which can affect one or both of upper limbs, abnormal heart rhythm, atrial septal defect (ASD), and ventricular septal defect (VSD). These symptoms vary from person to person. The diagnose of this disease is not recommended, however test are done when cardiac symptoms begin to manifest at the later life stage of the patient. X-rays, electrocardiogram, and echocardiogram are used to perform the test. Curing the symptoms, orthopedic surgery to enhance limb movements, and pacemakers are treatments. Parent who have the disease or carry the …show more content…
A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males (who have only one X chromosome), one altered copy of the ABCD1 gene in each cell is sufficient to cause X-linked adrenoleukodystrophy. Because females have two copies of the X chromosome, one altered copy of the ABCD1 gene in each cell usually does not cause any features of X-linked adrenoleukodystrophy; however, some females with one altered copy of the gene have health problems associated with this disorder. The signs and symptoms of X-linked adrenoleukodystrophy tend to appear at a later age in females than in males. Affected women usually develop features of the adrenomyeloneuropathy
Heart-Hand syndrome & X-linked Adrenoleukodystrophy
Heart-Hand Syndrome is also known as Holt-Oram Syndrome, where individuals are born with skeletal abnormalities of hand and arms (upper limbs) and heart problems due to the mutation of HOS1into the TBX gene. TBX gene plays a role in controlling growth of bone in the hand and arm. Also, TBX is present in chromosome 12. The symptoms include: missing thumbs, long thumb that looks a like a finger, partial or complete absences of bones in the forearm, undeveloped bone of the upper arm, abnormities of the collarbone or shoulder blades which can affect one or both of upper limbs, abnormal heart rhythm, atrial septal defect (ASD), and ventricular septal defect (VSD). These symptoms vary from person to person. The diagnose of this disease is not recommended, however test are done when cardiac symptoms begin to manifest at the later life stage of the patient. X-rays, electrocardiogram, and echocardiogram are used to perform the test. Curing the symptoms, orthopedic surgery to enhance limb movements, and pacemakers are treatments. Parent who have the disease or carry the …show more content…
A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males (who have only one X chromosome), one altered copy of the ABCD1 gene in each cell is sufficient to cause X-linked adrenoleukodystrophy. Because females have two copies of the X chromosome, one altered copy of the ABCD1 gene in each cell usually does not cause any features of X-linked adrenoleukodystrophy; however, some females with one altered copy of the gene have health problems associated with this disorder. The signs and symptoms of X-linked adrenoleukodystrophy tend to appear at a later age in females than in males. Affected women usually develop features of the adrenomyeloneuropathy