Overview of Cri-Du-Chat Syndrome
University of Central Oklahoma
CRI-DU-CHAT SYNDROME
By
James Truby
May 3, 2006
BIO 2233 Heredity
Paper Assignment
CRI-DU-CHAT SYNDROME (CDCS)
Cri-du-chat syndrome (CDCS) refers to a unique combination of physical and mental characteristics associated with a loss of genetic material on the distal short arm of the fifth chromosome. This loss of genetic material is referred to as a deletion. CDCS is also called 5p- syndrome (5p-S), 5p monosomy, or Cat Cry syndrome which was first identified by Dr. Jerome Lejeune in 1963. He named so because of the distinctive cry in infancy that resembles to the mewing of a cat. This characteristic cry in the infancy is caused by structural abnormalities of the larynx (such as laryngeal hypoplasia) and CNS dysfunction (Chen, 2005). The laryngeal appearance may be normal or may exhibit remarkable anatomical abnormalities such as floppy epiglottis, small larynx, and asymmetric vocal cords. In addition to that, developmental field connecting the brain and the affected clivus region of the cranial base with the laryngeal region from which the characteristic cry derives may exist (Chen 2005). Its high-pitched, monochromatic cry usually makes a physician decide to obtain a chromosome study and the definitive test required to confirm the diagnosis of CDCS (Campbell, 2005). The characteristic cry usually disappears by the time they are aged two year. Other features evident in infancy include characteristic physical features such as a small moon-shaped face, epicanthic folds, wide spaced, down-slanting eyes, and a small mouth and chin (Campbell, 2005). These infants also exhibit low muscle tone (hypotonia), slow growth, and significant developmental delays. As children with CDCS grow, the face usually elongates and becomes thinner and more triangular in shape with a broad forehead and a somewhat small pointed and receding lower jaw and chin.. The epicantal folds remain and the nasal bridge widens
CRI-DU-CHAT SYNDROME
By
James Truby
May 3, 2006
BIO 2233 Heredity
Paper Assignment
CRI-DU-CHAT SYNDROME (CDCS)
Cri-du-chat syndrome (CDCS) refers to a unique combination of physical and mental characteristics associated with a loss of genetic material on the distal short arm of the fifth chromosome. This loss of genetic material is referred to as a deletion. CDCS is also called 5p- syndrome (5p-S), 5p monosomy, or Cat Cry syndrome which was first identified by Dr. Jerome Lejeune in 1963. He named so because of the distinctive cry in infancy that resembles to the mewing of a cat. This characteristic cry in the infancy is caused by structural abnormalities of the larynx (such as laryngeal hypoplasia) and CNS dysfunction (Chen, 2005). The laryngeal appearance may be normal or may exhibit remarkable anatomical abnormalities such as floppy epiglottis, small larynx, and asymmetric vocal cords. In addition to that, developmental field connecting the brain and the affected clivus region of the cranial base with the laryngeal region from which the characteristic cry derives may exist (Chen 2005). Its high-pitched, monochromatic cry usually makes a physician decide to obtain a chromosome study and the definitive test required to confirm the diagnosis of CDCS (Campbell, 2005). The characteristic cry usually disappears by the time they are aged two year. Other features evident in infancy include characteristic physical features such as a small moon-shaped face, epicanthic folds, wide spaced, down-slanting eyes, and a small mouth and chin (Campbell, 2005). These infants also exhibit low muscle tone (hypotonia), slow growth, and significant developmental delays. As children with CDCS grow, the face usually elongates and becomes thinner and more triangular in shape with a broad forehead and a somewhat small pointed and receding lower jaw and chin.. The epicantal folds remain and the nasal bridge widens