Missing piece (partial deletion or monosomy) of the short arm of chromosome 4.
Chromosomes are found in the nucleus of all body cells.
They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with the 23rd pair made up of the X and Y chromosomes, with XX associated with female sex, and XY associated with male sex. Each chromosome has a short arm designated “p” and a long arm designated “q.” Chromosomes are further sub-divided into numbered bands.
For example, “chromosome 4p16.3” (pronounced “four p one-six point three”) refers to band 16.3 on the short arm of chromosome 4. The numbered bands are used to specify the location of the genes found on each chromosome.
Deletion of part of the short arm of chromosome 4 (4p) causes this disorder. It is believed that a portion of band 16.3 on chromosome 4p (4p16.3) is the “critical region” for the disorder, meaning that deletion of this area leads to full expression of Wolf-Hirschhorn syndrome.
In most people, the deletion causing WHS happened extremely early in that individual’s development (possibly in the egg or sperm prior to fertilization) and is not inherited from that person’s parents (this is referred to as spontaneous or de novo). Much less commonly, the disorder is inherited from a parent who has a balanced translocation.
A translocation is an abnormal chromosome made when pieces of two or more chromosomes break off and trade places. If all of the parts of both chromosomes that participated in the swap are present, this is said to be “balanced.” Because a person with a balanced translocation has all the necessary genetic material for normal development, individuals with balanced translocations do not usually have health problems related to their abnormal chromosome.
Unfortunately, a balanced translocation can be transmitted to a child in an unbalanced fashion, leading to missing or extra genetic material in a child and causing a chromosome disorder like WHS.
Chromosome (cytogenetic) testing can determine if a parent has a balanced translocation.
Small jaw and/or small mouth and/or Small lower part of the face?
Problems with teeth?
Feeding problems/swallowing difficulties?
Slowed growth and/or shorter than average?
Heart (cardiac) defects/atrial septal defect (‘hole in the heart’):
Short of breath and/or breathing difficulties (whether after exercise or not) and/or wheezing?
Regular and reoccurring chest infections?
Heart palpitations and/or irregular heartbeats?
Difficult to concentrate /difficulty in concentrating/memory problems and/or learning difficulties?
Abnormalities of the kidneys/Pain in pelvis area and/or lower back and/or intense pain in the back or side (or moving pain from back to side) or in groin area?
Incontinence?
Abnormalities of the penis (opening of penis in wrong place), testicles (failure of testicles to fall to right position), or vagina (Blockage of the vagina)/Underdevelopment or malformation of genitals and urinary tract?
Problems with bones?
Malformation of the hands, feet, chest, and spine?
Low muscle tone and poor muscle development/ Loss of muscle and/or muscle are shrinking?
Bone and joint movement problems and/or difficulty using arms and/or body and/or legs and/or lack of stamina and/or walking difficulties and/or crawling difficulties and/or rolling over difficulties?
Creases across the palms called ‘simian creases’?
Seizures?
Complications /Information to beware of/General tips:
Cri-du-chat syndrome is a congenital chromosomal disorder that involves a partial deletion of chromosome 5 particularly including poor growth, small head, feeding problems and intellectual impacts.
Persons with this disorder have breathing and airway problems and a high, shrill cry.
They have distinctive facial features that are not the same as those seen in Wolf-Hirschhorn syndrome
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Detailed Information
Please copy and paste any key words from the title: Wolf-Hirschhorn syndrome in the following respective 'Medtick References and/or Sources' to find out more about the disease (this also may include diagnosis tests and generic medical treatments).
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