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13q deletion syndrome is a rare genetic disease caused by the deletion of some or all of the large arm of human chromosome 13. Depending upon the size and location of the deletion on chromosome 13, the physical and mental manifestations will vary. It has the potential to cause intellectual disability and congenital malformations that affect a ...
In a small percentage of cases, trisomy 13 is caused by a rearrangement of chromosomal material between chromosome 13 and another chromosome. As a result, a person has the two usual copies of chromosome 13, plus extra material from chromosome 13 attached to another chromosome. These cases are called translocation trisomy 13.
The next frequently involved are 9, 13, 15, 18, 20 and 22. [8] It has been observed that CPM involving the sex chromosomes usually has no adverse effects on fetal development. [9] The common autosomal trisomies (21, 18, 13) made up a smaller number of cases of mosaicism detected on CVS, but were more often confirmed in fetal tissue (19%). [3]
[1] [3] [5] The syndrome is diagnosed when genetic testing confirms a mutation in CDK13. [2] Treatment centres around the symptoms. Medication or, in severe cases, gastrostomy can be used for the gastrointestinal dysmotility. [2] [3] [6] Speech therapy as early as possible or assistive communication devices can aid language development.
One of them consists in micro-deletions of the chromosome region 15q11–q13. 70% of patients present a 5–7-Mb de novo deletion in the proximal region of the paternal chromosome 15. The second frequent genetic abnormality (~ 25–30% of cases) is maternal uniparental disomy of chromosome 15.
46,XX/46,XY – a chimeric condition where the person shows variable karyotype in the 23rd chromosome pair, resulting from embryonic merging. [22] It can vary in presentation from phenotypically normal, to ambiguous. [23] Androgen insensitivity syndrome (AIS) – a condition which affects a genetic male's virilization. A person with androgen ...
Sexual anomalies, also known as sexual abnormalities, are a set of clinical conditions due to chromosomal, gonadal and/or genitalia variation.Individuals with congenital (inborn) discrepancy between sex chromosome, gonadal, and their internal and external genitalia are categorised as individuals with a disorder of sex development (DSD). [1]
Three chromosomal abnormalities with ISCN nomenclature, with increasing complexity: (A) A tumour karyotype in a male with loss of the Y chromosome, (B) Prader–Willi Syndrome i.e. deletion in the 15q11-q12 region and (C) an arbitrary karyotype that involves a variety of autosomal and allosomal abnormalities. [3]