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 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

1. 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" . European Journal of Medical Genetics. 58 (11): 578–583. doi:10.1016/j.ejmg.2015.08.003. ISSN   1769-7212. PMID   26297194.
2. "Orphanet: 7p22.1 microduplication syndrome". www.orpha.net. Retrieved 2022-04-30.
3. 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.
4. 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". Case Reports in Genetics. 2015: e212436. doi: 10.1155/2015/212436 . ISSN   2090-6544. PMC   4393924 . PMID   25893121.