Living with a Chromosome Abnormality!

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Diagnosis of Chromosomal Abnormalities

Her Baby Was Diagnosed With Chromosomal Abnormalities

Angelman syndrome is a rare disorder that affects chromosome 15, resulting in intellectual and developmental delay. Common signs and symptoms usually appear in early childhood but despite these symptoms, people with Angelman syndrome have an overall happy and excitable demeanor. #InternationalAngelmanDay #angelmanday2024 | Angelman Syndrome Foundation

Iman Khalif has an XY chromosome pattern, typically associated with male development. However, due to a chromosomal abnormality in the testis-determining region (TDR) of the Y chromosome and in the SOX9 gene, which are crucial for male sex determination, her body does not develop male characteristics. This condition often results in underdeveloped or absent testes, leading to significantly lower testosterone levels. As a result, despite the XY chromosomes, she develops female physical characteri