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Τι (ποιος) είναι 9q34 3 deletion syndrome - ορισμός

MULTIPLE CONGENITAL ANOMALY CAUSED BY DELETION ON CHROMOSOME 11

11q deletion syndrome

9q34.3 deletion syndrome

HUMAN DISEASE

Kleefstra syndrome; Chromosome 9q deletion syndrome; 9q34 deletion syndrome; Kleefstra Syndrome

9q34 deletion syndrome is a rare genetic disorder. Terminal deletions of chromosome 9q34 have been associated with childhood hypotonia, a distinctive facial appearance and developmental disability.

https://en.wikipedia.org/wiki/9q34.3_deletion_syndrome

1p36 deletion syndrome

HUMAN DISEASE

1p36 Deletion Syndrome; Chromosome 1, 1p36 deletion syndrome; Monosomy 1p36 syndrome; Monosomy 1p36

1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision impairment, and distinct facial features. The symptoms may vary, depending on the exact location of the chromosomal deletion.

https://en.wikipedia.org/wiki/1p36_deletion_syndrome

Distal 18q-

HUMAN DISEASE

De Grouchy syndrome; 18p deletion syndrome; De Grouchy Syndrome; 18q deletion syndrome

Distal 18q- is a genetic condition caused by a deletion of genetic material within one of the two copies of chromosome 18. The deletion involves the distal section of 18q and typically extends to the tip of the long arm of chromosome 18.

https://en.wikipedia.org/wiki/Distal_18q-

Βικιπαίδεια

Jacobsen syndrome

Jacobsen syndrome is a rare chromosomal disorder resulting from deletion of genes from chromosome 11 that includes band 11q24.1. It is a congenital disorder. Since the deletion takes place on the q arm of chromosome 11, it is also called 11q terminal deletion disorder. The deletion may range from 5 million to 16 million deleted DNA base pairs. The severity of symptoms depends on the number of deletions; the more deletions there are, the more severe the symptoms are likely to be.

People with Jacobsen syndrome have serious intellectual disabilities, dysmorphic features, delayed development and a variety of physical problems including heart defects. Research shows that almost 88.5% of people with Jacobsen syndrome have a bleeding disorder called Paris-Trousseau syndrome.

Jacobsen syndrome is catastrophic in 1 out of every 5 cases, with children usually dying within the first 2 years of life due to heart complications.

https://en.wikipedia.org/wiki/Jacobsen syndrome