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Caselli, Rossella; Ballarati, Lucia; Vignoli, Aglaia; Peron, Angela; Recalcati, Maria Paola; Catusi, Ilaria; Larizza, Lidia; Giardino, Daniela (November 2015).
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Caselli, Rossella; Ballarati, Lucia; Vignoli, Aglaia; Peron, Angela; Recalcati, Maria Paola; Catusi, Ilaria; Larizza, Lidia; Giardino, Daniela (2015-11-01).
251:"7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature"
180:"7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature"
298:"Case of 7p22.1 Microduplication Detected by Whole Genome Microarray (REVEAL) in Workup of Child Diagnosed with Autism"
153:, meaning that a baby would need 1 copy of a mutated gene from both parents in order to show symptoms of the disorder.
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This condition (as the name implies) is caused by a 430 kB duplication of the p22.1 region of
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The symptoms of this syndrome are (but are not limited to) cranio-facial dysmorphisms such as
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Only 60 cases of 7q22.1 microduplication syndrome have been recorded in medical literature.
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Rare chromosomal abnormality in which part of the short arm of chromosome 7 is duplicated
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129:, speech and motor delays, and heart, ocular, renal and skeletal defects (such as
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intellectual disabilities, speech and motor delay, facial dysmorphisms
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Goitia, Veronica; Oquendo, Marcial; Stratton, Robert (2015-03-29).
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which is characterized by cranial and facial dysmorphisms,
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226:"Orphanet: 7p22.1 microduplication syndrome"
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125:, low-set ears, hypertelorism, etc.,
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255:European Journal of Medical Genetics
184:European Journal of Medical Genetics
79:Duplication of the p22.1 region in
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90:7p22.1 microduplication syndrome
25:7p22.1 microduplication syndrome
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267:10.1016/j.ejmg.2015.08.003
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127:intellectual disabilities
302:Case Reports in Genetics
103:intellectual disability
135:brachydactyly type D
131:patent foramen ovale
315:10.1155/2015/212436
151:autosomal recessive
149:. This mutation is
113:Signs and symptoms
362:Genetic syndromes
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95:Trisomy 7p22.1
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233:. Retrieved
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157:Epidemiology
147:chromosome 7
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119:macrocephaly
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107:chromosome 7
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81:chromosome 7
308:: e212436.
133:{heart} or
60:Usual onset
30:Other names
235:2022-04-30
165:References
324:2090-6544
275:1878-0849
204:1769-7212
71:Life-long
39:Specialty
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68:Duration
51:Symptoms
333:4393924
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141:Causes
76:Causes
63:Birth
338:PMID
320:ISSN
306:2015
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200:ISSN
328:PMC
310:doi
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