Medicine:7p22.1 microduplication syndrome
| 7p22.1 microduplication syndrome | |
|---|---|
| Other names | Trisomy 7p22.1 |
| Specialty | Medical genetics |
| Symptoms | intellectual disabilities, speech and motor delay, facial dysmorphisms |
| Usual onset | Birth |
| Duration | Life-long |
| Causes | Duplication of the p22.1 region in chromosome 7 |
7p22.1 microduplication syndrome (also called Trisomy 7p22.1) is a newly discovered genetic disorder which is characterized by cranial and facial dysmorphisms, intellectual disability, and motor-speech delays.[1] It is caused by a duplication of the p22.1 region of chromosome 7.
Signs and symptoms
The symptoms of this syndrome are (but are not limited to) cranio-facial dysmorphisms such as macrocephaly, frontal bossing, low-set ears, hypertelorism, etc., intellectual disabilities, speech and motor delays, and heart, ocular, renal and skeletal defects (such as patent foramen ovale {heart} or brachydactyly type D {skeletal} ).[2]
Causes
This condition (as the name implies) is caused by a 430 kB duplication of the p22.1 region of chromosome 7.[3] This mutation is autosomal recessive, meaning that a baby would need 1 copy of a mutated gene from both parents in order to show symptoms of the disorder.
Epidemiology
Only 60 cases of 7q22.1 microduplication syndrome have been recorded in medical literature.[4]
References
- ↑ Caselli, Rossella; Ballarati, Lucia; Vignoli, Aglaia; Peron, Angela; Recalcati, Maria Paola; Catusi, Ilaria; Larizza, Lidia; Giardino, Daniela (2015-11-01). "7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature" (in en). European Journal of Medical Genetics 58 (11): 578–583. doi:10.1016/j.ejmg.2015.08.003. ISSN 1769-7212. PMID 26297194. https://www.sciencedirect.com/science/article/pii/S1769721215300100.
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: 7p22.1 microduplication syndrome" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=314034.
- ↑ Caselli, Rossella; Ballarati, Lucia; Vignoli, Aglaia; Peron, Angela; Recalcati, Maria Paola; Catusi, Ilaria; Larizza, Lidia; Giardino, Daniela (November 2015). "7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature". European Journal of Medical Genetics 58 (11): 578–583. doi:10.1016/j.ejmg.2015.08.003. ISSN 1878-0849. PMID 26297194. https://pubmed.ncbi.nlm.nih.gov/26297194/.
- ↑ Goitia, Veronica; Oquendo, Marcial; Stratton, Robert (2015-03-29). "Case of 7p22.1 Microduplication Detected by Whole Genome Microarray (REVEAL) in Workup of Child Diagnosed with Autism" (in en). Case Reports in Genetics 2015: e212436. doi:10.1155/2015/212436. ISSN 2090-6544. PMID 25893121.
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