Paternal 15 chromosome deletion is seen in ?
**Core Concept:**
A deletion refers to the absence of a part of a chromosome, which can lead to genetic disorders. Chromosome 15 is one of the 23 pairs of chromosomes in humans, and it is involved in various physiological processes. In the context of genetics, the question asks about a specific deletion involving the paternal (from the mother's side) chromosome 15.
**Why the Correct Answer is Right:**
The correct answer is related to a specific genetic disorder caused by a deletion on the paternal chromosome 15. This deletion is known as Prader-Willi syndrome (PWS). PWS is caused by the absence of genes located on the short arm (p arm) of the paternal chromosome 15. This leads to the disruption of normal gene expression and results in a wide range of clinical features.
**Why Each Wrong Option is Incorrect:**
A. This option is incorrect because it refers to the maternal chromosome 15 deletion, which results in Angelman syndrome (AS), a different genetic disorder caused by the absence of genes located on the long arm (q arm) of the maternal chromosome 15.
B. This option is incorrect as it refers to a different chromosome (Chromosome 22) and a different genetic disorder (Dandy-Walker syndrome).
C. This option is incorrect as it also refers to a different chromosome (Chromosome 18) and a different genetic disorder (Edwards syndrome).
D. This option is incorrect as it refers to a different chromosome (Chromosome 16) and a different genetic disorder (Deafness, on chromosome 16).
**Clinical Pearl:**
Prader-Willi syndrome and Angelman syndrome are examples of imprinting disorders, where the expression of specific genes is influenced by the parent of origin (i.e., whether the gene is inherited from the mother or father). This is a result of the differential methylation of specific genes depending on the parent of origin. These disorders can be identified through genetic testing, such as chromosomal microarray analysis or chromosomal microarray with imprinting analysis.
**Correct Answer:**
The correct answer is option D, which refers to the paternal deletion of chromosome 15 and the resulting Prader-Willi syndrome. Prader-Willi syndrome patients typically present with a characteristic clinical phenotype, including short stature, hypotonia, developmental delay, and distinctive facial features. Additionally, affected individuals often have feeding difficulties in infancy, leading to failure to thrive, and can develop obesity later in life, a key feature of the syndrome.