Cri+Du+Chat-Brittany+A

Cri Du Chat **Description: ** Cri Du Chat is a result of when a piece of Chromosome 5 is missing. You can tell an infant has Cri Du Chat by the sound of its cry. Instead of sounding like a normal baby’s cry it sounds more like a cat’s cry. Babies with this syndrome have intellectual disability and delayed development, a small head, low birth weight, weak muscle tone, widely set eyes, low set ears, and a small jaw. Some children are also born with a heart defect.

**Inheritance: **  Most cases of this syndrome is, in most cases, not inherited. The deletion of Chromosome 5 is mostly a random event during formation of reproductive cells or in an early fetal development. Most of the genes are missing because of this deletion. There is a small percentage of people who inherit Cri Du Chat from unaffected parents. The parent carries this chromosomal rearrangement called balanced translocation. There is no genetic material gained or lost. Children who inherit this have a chromosomal rearrangement with extra or missing genetic material.

**Symptoms: ** - Cry that is high- pitched and sounds like a cat - Downward slant to the eyes - Low birth weight and slow growth - Low-set or abnormally shaped ears <span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">- Mental retardation <span style="line-height: normal; margin-bottom: 0pt; margin-left: 0.5in; margin-right: 0in; margin-top: 0in; text-indent: -0.25in;"><span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">- Partial webbing or fusing of fingers or toes <span style="line-height: normal; margin-bottom: 0pt; margin-left: 0.5in; margin-right: 0in; margin-top: 0in; text-indent: -0.25in;"><span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">- Single line in the palm of the hand <span style="line-height: normal; margin-bottom: 0pt; margin-left: 0.5in; margin-right: 0in; margin-top: 0in; text-indent: -0.25in;"><span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">- Skin tags just in front of the ear <span style="line-height: normal; margin-bottom: 0pt; margin-left: 0.5in; margin-right: 0in; margin-top: 0in; text-indent: -0.25in;"><span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">- Slow or incomplete development of motor skills <span style="line-height: normal; margin-bottom: 0pt; margin-left: 0.5in; margin-right: 0in; margin-top: 0in; text-indent: -0.25in;"><span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">- Small head <span style="line-height: normal; margin-bottom: 0pt; margin-left: 0.5in; margin-right: 0in; margin-top: 0in; text-indent: -0.25in;"><span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">- Small jaw <span style="line-height: normal; margin-bottom: 0pt; margin-left: 0.5in; margin-right: 0in; margin-top: 0in; text-indent: -0.25in;"><span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">- Wide- set eyes <span style="color: black; font-family: Times,serif; font-size: 12pt; line-height: normal; margin-bottom: 0pt; margin-left: 0.5in; margin-right: 0in; margin-top: 0in; text-indent: -0.25in;">- Flatten bridge of the nose

<span style="line-height: normal; margin-bottom: 0pt; margin-left: 0.5in; margin-right: 0in; margin-top: 0in; text-indent: -0.25in;"><span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">- <span style="line-height: 14.25pt; margin-bottom: 0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Daily Life: ** <span style="font-family: 'Times New Roman',serif;">media type="custom" key="9499048"

<span style="line-height: 14.25pt; margin-bottom: 0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;"> **<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Diagnosis: ** <span style="color: black; font-family: Times,serif; font-size: 12pt; line-height: 14.25pt; margin-bottom: 0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;"> Cri Du Chat is diagnosed at birth. A very distinctive cry that sounds like a cat is how doctors diagnose someone with this syndrome. The cry is caused by abnormal larynx development, one of the many symptoms that people with this disorder have. After the age of two, it is less noticeable, making it harder for doctors to diagnose it. You can also do a test while the baby is still in the mother’s womb.

<span style="line-height: 14.25pt; margin-bottom: 0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Treatment: ** <span style="font-family: Times,serif; font-size: 12pt; line-height: normal; margin-bottom: 0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">Unfortunately, there is no cure for Cri Du Chat. The only treatment someone with this syndrome can get would be: physiotherapy to improve poor muscle tone, speech therapy, communication alternatives such as sign language, and occupational therapy to teach coping strategies and new skills.

<span style="line-height: 14.25pt; margin-bottom: 0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Research: ** <span style="color: black; font-family: Times,serif; font-size: 12pt; line-height: normal; margin-bottom: 0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">Previous research has shown that there is no prevention. There is currently no research being done specifically for Cri Du Chat syndrome.

<span style="line-height: 14.25pt; margin-bottom: 0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Additional Facts: ** <span style="color: black; font-family: Times,serif; font-size: 12pt; line-height: normal; margin-bottom: 0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">Cri Du Chat is not inherited. Someone has this when a piece of chromosome 5 is deleted. The mutation starts at an early stage of the reproductive cells or in an early fetal development. It is also unlikely that someone with this syndrome with survive.

<span style="line-height: 14.25pt; margin-bottom: 0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Punnett Square/Pedigree Chart: **

<span style="color: black; font-family: Times,serif; font-size: 12pt; line-height: 14.25pt; margin-bottom: 0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;"> There is no Punnett Square or Pedigree Chart because Cri Du Chat is a deletion of Chromosome 5 and is not inherited.

<span style="line-height: 14.25pt; margin-bottom: 0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">**<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,serif; font-size: 12pt; line-height: 115%; margin-bottom: 10pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;"> Genetics Science Learning Center <span style="font-family: Times,serif; font-size: 12pt; line-height: 115%; margin-bottom: 10pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">[]

<span style="font-family: Times,serif; font-size: 12pt; line-height: 115%; margin-bottom: 10pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">National Human Genome Research Institute <span style="font-family: Times,serif; font-size: 12pt; line-height: 115%; margin-bottom: 10pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">[]

<span style="font-family: Times,serif; font-size: 12pt; line-height: 115%; margin-bottom: 10pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">University of Maryland: Medical Center <span style="font-family: Times,serif; font-size: 12pt; line-height: 115%; margin-bottom: 10pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">[]

<span style="font-family: Times,serif; font-size: 12pt; line-height: 115%; margin-bottom: 10pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">Genetic’s Home Reference <span style="font-family: Times,serif; font-size: 12pt; line-height: 115%; margin-bottom: 10pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">[]

<span style="font-family: Times,serif; font-size: 12pt; line-height: 115%; margin-bottom: 10pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">New York Times: Health Guide- Cri Du Chat Syndrome <span style="font-family: Times,serif; font-size: 12pt; line-height: 115%; margin-bottom: 10pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">[]

<span style="font-family: Times,serif; font-size: 12pt; line-height: 115%; margin-bottom: 10pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">Better Health Chanel: Cri Du Chat Syndrome <span style="font-family: Times,serif; font-size: 12pt; line-height: 115%; margin-bottom: 10pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">[]