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Sex-linked Disorders

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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.

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18q21.1q21.32 Deletion in a Patient With Juvenile Cerebral Infarction.

Koji Obara^1,2, Takumi Inomata¹

¹Neurology, National Hospital Organization Akita National Hospital, Yurihonjo, JPN.

|July 31, 2023

Summary

This study reports a rare case of chromosome 18q deletion syndrome associated with juvenile cerebral infarction, a previously undocumented link. Further research into deleted genes may illuminate causes of stroke in chromosomal aberration patients.

Keywords:

18q deletion acgh pitt–hopkins syndrome striatocapsular infarction tcf4

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Area of Science:

Genetics
Neurology
Pediatrics

Background:

Chromosome 18q deletion syndrome is a known genetic disorder with variable phenotypes including intellectual disability and congenital anomalies.
Cerebral infarction has not been previously associated with chromosome 18q deletions.

Observation:

A 32-year-old woman with 18q deletion syndrome presented with acute neurological deficits indicative of a striatocapsular infarction.
Genetic analysis revealed a microdeletion on chromosome 18q21.1q21.32, encompassing the TCF4 and SMAD4 genes.

Findings:

The patient exhibited facial features consistent with Pitt-Hopkins syndrome (PTHS) due to TCF4 haploinsufficiency, but lacked typical respiratory abnormalities.
No thrombotic or embolic sources were identified as causes for the juvenile cerebral infarction.

Implications:

This case suggests a potential, though unconfirmed, link between chromosome 18q deletions and juvenile cerebral infarction.
Investigating genes within deleted chromosomal regions in patients with cerebral infarction could enhance understanding of stroke mechanisms.