Cri-Du-Chat+-Britt+J.

Cri-Du-Chat  ** Description: ** Also known as 5p-, Cri-Du-Chat is French for “cry of the cat,” due to the pitch of the baby’s cry when they have this disease. The babies with this are small at birth, born with respiratory problems and mild to severe heart conditions. Cri-Du-Chat is recognizable by the small head, round face, widely set eyes, small bridge of the nose, and, of course, the cat-like cry. The distinct cry is believed to be caused by an underdeveloped larynx (the vocal box). This disease may also be recognized by mild to severe mental retardation along with other problems such as hearing and/or sight problems, difficulty walking and/or talking, and other internal issues. Despite these problems, the life expectancy is average if no serious defects are present.  This disorder is rarely inherited. It is acquired in the sperm or egg before fertilization, in the chromosomes. Cri-Du-Chat is caused by the deletion of part of chromosome 5. The deletion is possible to inherit; however, only approximately ten percent of all sufferers acquired the disease through inheritance.   **Symptoms: **  ¨ High pitched, cat-like cry   ¨ Downward slant to the eyes  <span style="line-height: normal; margin: 0in 0in 0pt 0.5in; mso-add-space: auto; mso-list: l1 level1 lfo1; text-indent: -0.25in;"> ¨ <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 10pt;">Low birth weight <span style="font-family: 'Times New Roman','serif'; font-size: 10pt;"> <span style="line-height: normal; margin: 0in 0in 0pt 0.5in; mso-add-space: auto; mso-list: l1 level1 lfo1; text-indent: -0.25in;"> ¨ <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 10pt;">Slow growth <span style="font-family: 'Times New Roman','serif'; font-size: 10pt;"> <span style="line-height: normal; margin: 0in 0in 0pt 0.5in; mso-add-space: auto; mso-list: l1 level1 lfo1; text-indent: -0.25in;"> ¨ <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 10pt;">Low-set or abnormally shaped ears <span style="font-family: 'Times New Roman','serif'; font-size: 10pt;"> <span style="line-height: normal; margin: 0in 0in 0pt 0.5in; mso-add-space: auto; mso-list: l1 level1 lfo1; text-indent: -0.25in;"> ¨ <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 10pt;">Mental retardation <span style="font-family: 'Times New Roman','serif'; font-size: 10pt;"> <span style="line-height: normal; margin: 0in 0in 0pt 0.5in; mso-add-space: auto; mso-list: l1 level1 lfo1; text-indent: -0.25in;"> ¨ <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 10pt;">Partial webbing or fusing of fingers or toes <span style="font-family: 'Times New Roman','serif'; font-size: 10pt;"> <span style="line-height: normal; margin: 0in 0in 0pt 0.5in; mso-add-space: auto; mso-list: l1 level1 lfo1; text-indent: -0.25in;"> ¨ <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 10pt;">Single line in palm of hand <span style="font-family: 'Times New Roman','serif'; font-size: 10pt;"> <span style="line-height: normal; margin: 0in 0in 0pt 0.5in; mso-add-space: auto; mso-list: l1 level1 lfo1; text-indent: -0.25in;"> ¨ <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 10pt;">Slower, incomplete development of motor skills <span style="font-family: 'Times New Roman','serif'; font-size: 10pt;"> <span style="line-height: normal; margin: 0in 0in 0pt 0.5in; mso-add-space: auto; mso-list: l1 level1 lfo1; text-indent: -0.25in;"> ¨ <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 10pt;">Small head <span style="font-family: 'Times New Roman','serif'; font-size: 10pt;"> <span style="line-height: normal; margin: 0in 0in 0pt 0.5in; mso-add-space: auto; mso-list: l1 level1 lfo1; text-indent: -0.25in;"> ¨ <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 10pt;">Small jaw <span style="font-family: 'Times New Roman','serif'; font-size: 10pt;"> <span style="line-height: normal; margin: 0in 0in 0pt 0.5in; mso-add-space: auto; mso-list: l1 level1 lfo1; text-indent: -0.25in;"> ¨ <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 10pt;">Wide-set eyes <span style="font-family: 'Times New Roman','serif'; font-size: 10pt;"> <span style="line-height: normal; margin: 0in 0in 0pt 0.5in; mso-add-space: auto; mso-list: l1 level1 lfo1; text-indent: -0.25in;"> ¨ <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 10pt;">Hearing problems <span style="font-family: 'Times New Roman','serif'; font-size: 10pt;"> <span style="line-height: normal; margin: 0in 0in 0pt 0.5in; mso-add-space: auto; mso-list: l1 level1 lfo1; text-indent: -0.25in;"> ¨ <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 10pt;">Sight problems <span style="font-family: 'Times New Roman','serif'; font-size: 10pt;"> <span style="line-height: normal; margin: 0in 0in 0pt 0.5in; mso-add-space: auto; mso-list: l1 level1 lfo1; text-indent: -0.25in;"> ¨ <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 10pt;">Difficulty walking/talking <span style="font-family: 'Times New Roman','serif'; font-size: 10pt;"> <span style="line-height: normal; margin: 0in 0in 0pt 0.5in; mso-add-space: auto; mso-list: l1 level1 lfo1; text-indent: -0.25in;"> ¨ <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 10pt;">Respiratory problems/heart defects
 * <span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Inheritance: **

<span style="font-family: 'Times New Roman','serif'; font-size: 10pt;"> **<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Daily Life: **<span style="font-family: 'Times','serif'; font-size: 12pt;"> <span style="color: black; font-family: 'Times New Roman','serif'; font-size: 12pt;">There are many challenges that sufferers of Cri-Du-Chat face daily. At school, they have a constant challenge paying attention and actually understanding what they are being taught. When they arrive home, they need to be looked after, and would probably have an appointment to get to with a doctor or therapist of types. They’d need assistance with any homework, and other assistance needed to carry out any everyday activity.

<span style="font-family: 'Times','serif'; font-size: 12pt;"> **<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Diagnosis: ** <span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Cri-Du-Chat is usually diagnosed in the hospital, at birth, by the cat-like cry and occasionally the physical abnormalities. This can also be diagnosed through chromosome analyses, or later diagnosed by any of the defects/symptoms. It becomes more difficult after age two to make this diagnosis right away.

<span style="font-family: 'Times','serif'; font-size: 12pt;"> **<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Treatment: **<span style="font-family: 'Times','serif'; font-size: 12pt;"> <span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Although this disease is incurable, other treatments to help can be provided. Speech therapy, physical therapy helping with motor skills, and constant educating can definitely improve the life of the sufferer.

<span style="font-family: 'Times','serif'; font-size: 12pt;"> **<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Research: ** <span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">There is no current research focusing on Cri-Du-Chat specifically, but there is some research being conducted on chromosomal abnormalities. <span style="font-family: 'Times','serif'; font-size: 12pt;">

<span style="font-family: 'Times','serif'; font-size: 12pt;"> **<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Additional Facts: ** <span style="line-height: 14.25pt; margin: 0in 0in 0pt 0.5in; mso-add-space: auto; mso-list: l0 level1 lfo2; mso-outline-level: 3; text-indent: -0.25in;"> ¨ <span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Cri-Du-Chat may be a fairly rare disease, but it is the most common caused by chromosomal deletion. <span style="font-family: 'Times','serif'; font-size: 12pt;"> <span style="line-height: 14.25pt; margin: 0in 0in 0pt 0.5in; mso-add-space: auto; mso-list: l0 level1 lfo2; mso-outline-level: 3; text-indent: -0.25in;"> ¨ <span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">This deletion happens more often in the father’s sperm rather than the mother’s egg. <span style="font-family: 'Times','serif'; font-size: 12pt;"> <span style="line-height: 14.25pt; margin: 0in 0in 0pt 0.5in; mso-add-space: auto; mso-list: l0 level1 lfo2; mso-outline-level: 3; text-indent: -0.25in;"> ¨ <span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">This disease only affects 1 in 20,000 babies yearly. <span style="font-family: 'Times','serif'; font-size: 12pt;"> <span style="color: black; font-family: 'Times','serif'; font-size: 12pt;"> <span style="font-family: 'Times','serif'; font-size: 12pt;"> ** <span style="font-family: 'Times','serif'; font-size: 12pt;">Punnet Square & Pedigree Chart: ** <span style="font-family: 'Times','serif'; font-size: 12pt;">A punnet square and pedigree chart cannot be created due to how Cri-Du-Chat is not inherited, but is caused by a deletion of part of chromosome 5. This is where the name 5p- comes from; the partial deletion. <span style="font-family: 'Times','serif'; font-size: 12pt;"> <span style="font-family: 'Times','serif'; font-size: 12pt;"> <span style="font-family: 'Times','serif'; font-size: 12pt;"> <span style="font-family: 'Times','serif'; font-size: 12pt;"> **<span style="color: black; font-family: 'Times New Roman','serif';">﻿ ****<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Resources: **<span style="font-family: 'Times New Roman','serif';">  <span style="font-family: 'Times New Roman','serif';">   <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 10pt; line-height: 115%;">[]   <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 10pt; line-height: 115%;">[]   <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 10pt; line-height: 115%;">[|www.genome.gov/19517558#al-3]