7p22.1 microduplication syndrome explained

7p22.1 microduplication syndrome
Synonyms:	Trisomy 7p22.1
Symptoms:	intellectual disabilities, speech and motor delay, facial dysmorphisms
Onset:	Birth
Duration:	Life-long

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 or brachydactyly type D).^[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]

Notes and 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 . en . 58 . 11 . 578–583 . 10.1016/j.ejmg.2015.08.003 . 26297194 . 1769-7212.
2. Web site: Orphanet: 7p22.1 microduplication syndrome . 2022-04-30 . www.orpha.net . en.
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 . 10.1016/j.ejmg.2015.08.003 . 1878-0849 . 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 . en . 2015 . e212436 . 10.1155/2015/212436 . 25893121 . 4393924 . 2090-6544. free .