Narrowing down the region responsible for 1q23.3q24.1 microdeletion by identifying the smallest deletion

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作者：
Takao Hoshina
Toshiyuki Seto
Taro Shimono
Hiroaki Sakamoto
Torayuki Okuyama
Takashi Hamazaki
Toshiyuki Yamamoto
机构：
[1] Osaka City University Graduate School of Medicine,Department of Pediatrics
[2] Osaka City University Graduate School of Medicine,Department of Medical Genetics
[3] Osaka City University Graduate School of Medicine,Department of Radiology
[4] Osaka City University Graduate School of Medicine,Department of Neurosurgery
[5] National Center for Child Health and Development,Department of Clinical Laboratory Medicine/Center for Lysosomal Storage Diseases
[6] Tokyo Women’s Medical University Institute for Integrated Medical Sciences,Institute of Medical Genetics
[7] Tokyo Women’s Medical University,undefined
来源：
Human Genome Variation | / 6卷
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摘要：
Interstitial deletions of 1q23.3q24.1 are rare. Here, chromosomal microarray testing identified a de novo microdeletion of arr[GRCh37]1q23.3q24.1(164816055_165696996) × 1 in a patient with moderate developmental delay, hearing loss, cryptorchidism, and other distinctive features. The clinical features were common to those previously reported in patients with overlapping deletions. The patient’s deletion size was 881 kb—the smallest yet reported. This therefore narrowed down the deletion responsible for the common clinical features. The deleted region included seven genes; deletion of LMX1A, RXRG, and ALDH9A1 may have caused our patient’s neurodevelopmental delay.
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