Aaron, a 3-month-old boy, was just diagnosed with a rare genetic immunodeficiency condition. Aaron's parents voiced concern about Aaron's facial features at a recent pediatric examination, noting that they do not resemble those of their two older children. The parents claimed that Aaron's eyes appeared more spaced out than usual and that his head appeared different from the other kids' heads. Additionally, they raised questions about and demanded an explanation for the labor after-visit summary notes. They read in the notes that Aaron had a cleft palate and a hole in his heart. But neither before nor during the mother's delivery or pregnancy did they receive any information about these defects. Reviewing the family history revealed that the two older kids, both parents, and maternal grandparents all have good health. Due to the father's adoption and lack of access to family or medical documents, it is unknown who his paternal grandparents were. An echocardiography and blood test were requested by the parents. The Tetralogy of Fallot's cardiac defect was evident on the echocardiography. Aaron was referred right away to a cardiac expert. Chromosome 22 was shown to be abnormal by the Karyotype blood test. While other blood tests revealed anomalies in the lymphocyte count and serum calcium levels. any facts about Di George syndrome?

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter5: The Inheritance Of Complex Traits

Section: Chapter Questions

Problem 3CS: If the child showed a cleft lip through ultrasound analysis and the parents then started blaming...

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Aaron, a 3-month-old boy, was just diagnosed with a rare genetic immunodeficiency condition. Aaron's parents voiced concern about Aaron's facial features at a recent pediatric examination, noting that they do not resemble those of their two older children. The parents claimed that Aaron's eyes appeared more spaced out than usual and that his head appeared different from the other kids' heads. Additionally, they raised questions about and demanded an explanation for the labor after-visit summary notes. They read in the notes that Aaron had a cleft palate and a hole in his heart. But neither before nor during the mother's delivery or pregnancy did they receive any information about these defects. Reviewing the family history revealed that the two older kids, both parents, and maternal grandparents all have good health. Due to the father's adoption and lack of access to family or medical documents, it is unknown who his paternal grandparents were. An echocardiography and blood test were requested by the parents. The Tetralogy of Fallot's cardiac defect was evident on the echocardiography. Aaron was referred right away to a cardiac expert. Chromosome 22 was shown to be abnormal by the Karyotype blood test. While other blood tests revealed anomalies in the lymphocyte count and serum calcium levels. any facts about Di George syndrome?

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