Paula and Bobby
Parents of Lillie
1q24-q25 deletion syndrome
What is 1q24-q25 deletion syndrome?
1q24-q25 deletion syndrome is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Chatron et al. (2014) described 18 patients with 1q24-q25 deletions ranging from 0.49 to 20.95Mb. Clinical features included IUGR, short stature, microcephaly, delayed bone age, intellectual disability, hypertelorism, dysplastic ears, micro- and retrognathia, short hands and feet, brachydactyly, and fifth finger clinodactyly. Additional characteristics were feeding difficulties, hypotonia, skeletal abnormalities (scoliosis, hip dysplasia, ulnar hypoplasia or pes planus), broad neck, hypertelorism, sparse hair, cleft lip/palate or high palate, kidney malformations (horseshoe), and cardiac malformation (ventricular or atrial septal defects). The size of the smallest deletion associated with the phenotype was 490 kb. We authors stated that deletions in the proximal region (chr1:164,501,003–167,022,133) are associated with cardiac and renal anomalies.
Ashraf et al. (2015) reported two females with variable size deletions in the 1q24-q25 region. Clinical features were short stature, coronal craniosynostosis, umbilical hernia, brachydactyly with broad thumbs, clinodactyly of fifth fingers and broad feet with widened great toes. Dysmorphic features included ptosis, small and deeply set eyes, low-set ears, and upturned bulbous nose. Novel skeletal features were modelling deformity of the distal ulna, sloping talar dome, broad and large lesser trochanters, and a shallow anterior cranial fossa.
* This information is courtesy of the L M D.
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What gene changes cause 1q24-q25 deletion syndrome?
The syndrome is inherited in the following inheritance pattern/s:
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of 1q24-q25 deletion syndrome?
The typical symptoms of the syndrome are:
How does someone get tested for 1q24-q25 deletion syndrome?
The initial testing for 1q24-q25 deletion syndrome can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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