A baby presents with multiple deformities, cleft lip, cleft palate, microcephaly, small eyes, scalp defect and polydactyly. Following manifestations are associated with which of the following chromosomal anomaly?
**Question:** A baby presents with multiple deformities, cleft lip, cleft palate, microcephaly, small eyes, scalp defect and polydactyly. Following manifestations are associated with which of the following chromosomal anomaly?
A. Down Syndrome
B. Edwards Syndrome
C. DiGeorge Syndrome
D. Turner Syndrome
**Core Concept:** Chromosomal abnormalities are genetic disorders caused by abnormalities in a person's chromosomes. They can lead to various developmental and physiological abnormalities. In this question, we are discussing manifestations related to specific chromosomal anomalies.
**Why the Correct Answer is Right:**
**Correct Answer: D. Turner Syndrome**
Turner Syndrome is a genetic disorder characterized by the partial or complete absence of one X chromosome, resulting from a genetic mutation. The clinical manifestations of Turner Syndrome include short stature, webbed neck, low-set ears, and heart defects. Microcephaly, small eyes, and scalp defect are also observed in this condition.
**Why Each Wrong Option is Incorrect:**
A. Down Syndrome (Trisomy 21): Down Syndrome is caused by the presence of an extra copy of chromosome 21. It is characterized by distinctive facial features, intellectual disability, and heart defects, but not microcephaly, small eyes, and scalp defect.
B. Edwards Syndrome (Trisomy 18): Edwards Syndrome is caused by the presence of an extra copy of chromosome 18. It features severe growth retardation, microcephaly, and characteristic facial features but does not involve the manifestations mentioned in the question.
C. DiGeorge Syndrome: DiGeorge Syndrome is caused by microdeletion of chromosome 22. It results in heart defects, cleft palate, and immunodeficiency but does not include microcephaly, small eyes, and scalp defect.
**Clinical Pearl:**
DiGeorge Syndrome and Edwards Syndrome are examples of chromosomal abnormalities involving specific chromosomes (chromosome 22 and chromosome 18, respectively). Turner Syndrome, however, results from a missing or incomplete X chromosome, causing distinctive physical features and health concerns. Understanding the specific chromosomal abnormalities and their associated symptoms is essential for accurate diagnosis and treatment planning in clinical practice.